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NM_001927.4(DES):c.1154T>C (p.Leu385Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 31, 2012)
Last evaluated:
Oct 10, 2000
Accession:
VCV000016829.1
Variation ID:
16829
Description:
single nucleotide variant
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NM_001927.4(DES):c.1154T>C (p.Leu385Pro)

Allele ID
31868
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219421470 (GRCh38) GRCh38 UCSC
2: 220286192 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_380:g.8094T>C
P17661:p.Leu385Pro
NC_000002.11:g.220286192T>C
... more HGVS
Protein change
L385P
Other names
-
Canonical SPDI
NC_000002.12:219421469:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA217023
UniProtKB: P17661#VAR_018771
OMIM: 125660.0010
dbSNP: rs57955682
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 10, 2000 RCV000018323.29
not provided 1 no assertion provided - RCV000056775.1
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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
(Oct 10, 2000)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 1
Allele origin: germline
OMIM
Accession: SCV000038602.3
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: SCV000087888.1
Submitted: (Jul 31, 2012)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Sugawara M Neurology 2000 PMID: 11061256

Text-mined citations for rs57955682...

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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