VCV000065629.3 - ClinVar

NM_004409.4(DMPK):c.*224CTG[(35_49)]

Germline

Top reviewed classifications are shown here.

Submission summary:

2 submissions

2 submitters

1 condition

Practice guidelines

Other

Oct 2015 by American Colle…

for Steinert myotonic dystrophy syndrome

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_004409.4(DMPK):c.*224CTG[(35_49)]

Variation ID: 65629 Accession: VCV000065629.3

Type and length

Microsatellite, -

Location

Cytogenetic: 19q13.32 19: 45770262-45770264 (GRCh38) [ NCBI UCSC ] 19: 46273520-46273522 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Oct 1, 2013	Jul 26, 2020	Oct 8, 2015

HGVS

Nucleotide	Protein	Molecular consequence
NC_000019.9:g.46273465GCA[(35_49)]

Protein change

Other names

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

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
Gene	OMIM	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.
DM1-AS	-	-	-	GRCh38	-	347
DMPK		-	-	GRCh38 GRCh37	61	303
LOC107075317	-	-	-	GRCh38	-	414
LOC109461477	-	-	-	GRCh38	-	199
LOC129929040	-	-	-	GRCh38	-	12

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.
Steinert myotonic dystrophy syndrome	other (2)	practice guideline	Oct 8, 2015	RCV000055840.3

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.
other (Oct 08, 2015)	practice guideline (ACMG DM1 Guidelines, 2009) Method: curation	Steinert myotonic dystrophy syndrome (Autosomal dominant inheritance) Affected status: no Allele origin: germline	American College of Medical Genetics and Genomics (ACMG) Accession: SCV001424572.1 First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020	Publications: Bookshelf: NBK1165 Bookshelf: NBK1165 Comment: DM1 premutation alleles are often identified in distant relatives of DM1 probands. These alleles are not associated with a clinical phenotype in the carrier but … (more) DM1 premutation alleles are often identified in distant relatives of DM1 probands. These alleles are not associated with a clinical phenotype in the carrier but are unstable and liable to expand in succeeding generations. (less)
non-pathogenic (May 16, 2013)	no assertion criteria provided Method: curation	Myotonic Dystrophy Type 1 Affected status: not provided Allele origin: not provided	GeneReviews Accession: SCV000086832.1 First in ClinVar: Oct 01, 2013 Last updated: Oct 01, 2013	Comment: Converted during submission to Benign.

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.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Myotonic Dystrophy Type 1.	Adam MP	-	2024	PMID: 20301344
Frequency and stability of the myotonic dystrophy type 1 premutation.	Martorell L	Neurology	2001	PMID: 11171897

Text-mined citations for this variant ...

Record last updated Sep 01, 2024

ClinVar Genomic variation as it relates to human health

NM_004409.4(DMPK):c.*224CTG[(35_49)]

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...