The c.1230G>T (p.L410F) alteration is located in exon 13 (coding exon 9) of the KRIT1 gene. This alteration results from a G to T substitution at nucleotide position 1230, causing the leucine (L) at amino acid position 410 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_194454.3(KRIT1):c.1230G>T (p.Leu410Phe)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_194454.3(KRIT1):c.1230G>T (p.Leu410Phe)
Variation ID: 3289310 Accession: VCV003289310.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q21.2 7: 92225744 (GRCh38) [ NCBI UCSC ] 7: 91855058 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 11, 2024 Aug 11, 2024 Apr 1, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_194454.3:c.1230G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_919436.1:p.Leu410Phe missense NM_001013406.2:c.1086G>T NP_001013424.1:p.Leu362Phe missense NM_001350669.1:c.1086G>T NP_001337598.1:p.Leu362Phe missense NM_001350670.1:c.1086G>T NP_001337599.1:p.Leu362Phe missense NM_001350671.1:c.516G>T NP_001337600.1:p.Leu172Phe missense NM_001350672.1:c.1230G>T NP_001337601.1:p.Leu410Phe missense NM_001350673.1:c.1230G>T NP_001337602.1:p.Leu410Phe missense NM_001350674.1:c.1230G>T NP_001337603.1:p.Leu410Phe missense NM_001350675.1:c.1230G>T NP_001337604.1:p.Leu410Phe missense NM_001350676.1:c.1230G>T NP_001337605.1:p.Leu410Phe missense NM_001350677.1:c.1230G>T NP_001337606.1:p.Leu410Phe missense NM_001350678.1:c.1230G>T NP_001337607.1:p.Leu410Phe missense NM_001350679.1:c.1230G>T NP_001337608.1:p.Leu410Phe missense NM_001350680.1:c.1230G>T NP_001337609.1:p.Leu410Phe missense NM_001350681.1:c.1230G>T NP_001337610.1:p.Leu410Phe missense NM_001350682.1:c.1230G>T NP_001337611.1:p.Leu410Phe missense NM_001350683.1:c.1230G>T NP_001337612.1:p.Leu410Phe missense NM_001350684.1:c.1230G>T NP_001337613.1:p.Leu410Phe missense NM_001350685.1:c.1230G>T NP_001337614.1:p.Leu410Phe missense NM_001350686.1:c.1230G>T NP_001337615.1:p.Leu410Phe missense NM_001350687.1:c.1230G>T NP_001337616.1:p.Leu410Phe missense NM_001350688.1:c.1230G>T NP_001337617.1:p.Leu410Phe missense NM_001350689.1:c.1230G>T NP_001337618.1:p.Leu410Phe missense NM_001350690.1:c.1230G>T NP_001337619.1:p.Leu410Phe missense NM_001350691.1:c.1230G>T NP_001337620.1:p.Leu410Phe missense NM_001350692.1:c.1230G>T NP_001337621.1:p.Leu410Phe missense NM_001350693.1:c.1230G>T NP_001337622.1:p.Leu410Phe missense NM_001350694.1:c.1230G>T NP_001337623.1:p.Leu410Phe missense NM_001350695.1:c.1230G>T NP_001337624.1:p.Leu410Phe missense NM_001350696.1:c.1230G>T NP_001337625.1:p.Leu410Phe missense NM_001350697.1:c.1230G>T NP_001337626.1:p.Leu410Phe missense NM_004912.4:c.1230G>T NP_004903.2:p.Leu410Phe missense NM_194455.1:c.1230G>T NP_919437.1:p.Leu410Phe missense NM_194456.1:c.1230G>T NP_919438.1:p.Leu410Phe missense NC_000007.14:g.92225744C>A NC_000007.13:g.91855058C>A NG_012964.1:g.25357G>T LRG_650:g.25357G>T LRG_650t1:c.1230G>T LRG_650p1:p.Leu410Phe - Protein change
- L172F, L410F, L362F
- Other names
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- Canonical SPDI
- NC_000007.14:92225743:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| KRIT1 | - | - |
GRCh38 GRCh37 |
658 | 688 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Apr 1, 2024 | RCV004644401.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Apr 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005130690.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.1230G>T (p.L410F) alteration is located in exon 13 (coding exon 9) of the KRIT1 gene. This alteration results from a G to T substitution … (more)
The c.1230G>T (p.L410F) alteration is located in exon 13 (coding exon 9) of the KRIT1 gene. This alteration results from a G to T substitution at nucleotide position 1230, causing the leucine (L) at amino acid position 410 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.1230G>T (p.L410F) alteration is located in exon 13 (coding exon 9) of the KRIT1 gene. This alteration results from a G to T substitution at nucleotide position 1230, causing the leucine (L) at amino acid position 410 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.