NM_002240.5(KCNJ6):c.1142T>C (p.Leu381Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 19, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003994379.1

Allele description [Variation Report for NM_002240.5(KCNJ6):c.1142T>C (p.Leu381Pro)]

NM_002240.5(KCNJ6):c.1142T>C (p.Leu381Pro)

Genes:

KCNJ6-AS1:KCNJ6 antisense RNA 1 [Gene - HGNC]
KCNJ6:potassium inwardly rectifying channel subfamily J member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

Preferred name:

NM_002240.5(KCNJ6):c.1142T>C (p.Leu381Pro)

HGVS:

NC_000021.9:g.37625289A>G
NG_029892.2:g.296105T>C
NM_002240.5:c.1142T>CMANE SELECT
NP_002231.1:p.Leu381Pro
NC_000021.8:g.38997591A>G

Protein change:

L381P

Links:

dbSNP: rs375800688

NCBI 1000 Genomes Browser:

rs375800688

Molecular consequence:

NM_002240.5:c.1142T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004813909	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Feb 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004813909

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Feb 19, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813909.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Variant summary: KCNJ6 c.1142T>C (p.Leu381Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 248948 control chromosomes. To our knowledge, no occurrence of c.1142T>C in individuals affected with Keppen-Lubinsky Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1512840). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine