NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND Primary dilated cardiomyopathy

Clinical significance:Pathogenic (Last evaluated: Sep 7, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037240.2

Allele description [Variation Report for NM_001927.4(DES):c.38C>T (p.Ser13Phe)]

NM_001927.4(DES):c.38C>T (p.Ser13Phe)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
HGVS:
  • NC_000002.12:g.219418500C>T
  • NG_008043.1:g.5124C>T
  • NG_046330.1:g.18892C>T
  • NM_001927.4:c.38C>TMANE SELECT
  • NP_001918.3:p.Ser13Phe
  • LRG_380t1:c.38C>T
  • LRG_380:g.5124C>T
  • NC_000002.11:g.220283222C>T
  • NM_001927.3:c.38C>T
  • P17661:p.Ser13Phe
  • c.38C>T
Protein change:
S13F; SER13PHE
Links:
UniProtKB: P17661#VAR_067208; OMIM: 125660.0019; dbSNP: rs62636495
NCBI 1000 Genomes Browser:
rs62636495
Molecular consequence:
  • NM_001927.4:c.38C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy; Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060897Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Sep 7, 2011)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided31not providednot providednot providedclinical testing

Citations

PubMed

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.

Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. Epub 2007 Jul 15.

PubMed [citation]
PMID:
17720647

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC.

Neuromuscul Disord. 2008 Feb;18(2):178-82. Epub 2007 Dec 3.

PubMed [citation]
PMID:
18061454
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060897.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (5)

Description

The Ser13Phe variant has been reported in several families showing significant s egregation with desmin-related myopathy (> than 10 affected family members posit ive) and was absent from > 400 control chromosomes (Bergman 2007, Pica 2008, van Tintelen 2009). Serine (Ser) at position 13 is highly conserved across evoluti onarily distant species, suggesting that a change in the amino acid may not be t olerated. In addition, in vitro studies show that this variant impacts the stru cture and function of desmin protein (Pica 2008, Sharma 2009). Therefore, the S er13Phe variant meets our criteria for pathogenicity (http://pcpgm.partners.org/ lmm) based on segregation studies, absence from controls, and functional evidenc e.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided1not provided

Last Updated: Oct 2, 2021

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