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NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Nov 20, 2019)
Last evaluated:
Nov 18, 2019
Accession:
VCV000016820.2
Variation ID:
16820
Description:
single nucleotide variant
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NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

Allele ID
31859
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219420939 (GRCh38) GRCh38 UCSC
2: 220285661 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P17661:p.Ala337Pro
NC_000002.11:g.220285661G>C
NC_000002.12:g.219420939G>C
... more HGVS
Protein change
A337P
Other names
-
Canonical SPDI
NC_000002.12:219420938:G:C
Functional consequence
variation affecting protein [Variation Ontology VariO:0002]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA216997
UniProtKB: P17661#VAR_007900
OMIM: 125660.0001
dbSNP: rs59962885
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 18, 2019 RCV000856836.1
Pathogenic 1 no assertion criteria provided Aug 1, 1998 RCV000018314.23
not provided 1 no assertion provided - RCV000056762.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DES - - GRCh38
GRCh37
569 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 18, 2019)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1I
(Autosomal dominant inheritance)
Allele origin: unknown
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
Accession: SCV000999053.1
Submitted: (Nov 20, 2019)
Evidence details
Comment:
The c.1009G>C variant has been previously reported in association with skeletal myopathy with familial segregation (PMID: 9697706), and it has a very low frequency (rs59962885). … (more)
Pathogenic
(Aug 01, 1998)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 1
Allele origin: germline
OMIM
Accession: SCV000038593.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000087875.1
Submitted: (Jul 31, 2012)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
variation affecting protein
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
Accession: SCV000999053.1
Submitted: (Nov 20, 2019)
Evidence details

Citations for this variant

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Title Author Journal Year Link
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Goldfarb LG Nature genetics 1998 PMID: 9697706

Text-mined citations for rs59962885...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021