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

Clinical significance:Pathogenic (Last evaluated: Mar 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001389153.1

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]

Condition(s)

Name:
Myofibrillar myopathy 1 (MFM1)
Synonyms:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419
Name:
Muscular dystrophy, limb-girdle, type 2R (LGMD2R)
Synonyms:
Autosomal recessive limb-girdle muscular dystrophy type 2R
Identifiers:
MONDO: MONDO:0014129; MedGen: C3809137; Orphanet: 363543

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001590419Invitaecriteria provided, single submitter
Pathogenic
(Mar 6, 2020)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot 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

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.

McCormick EM, Kenyon L, Falk MJ.

Front Genet. 2015;6:199. doi: 10.3389/fgene.2015.00199.

PubMed [citation]
PMID:
26097489
PMCID:
PMC4456612
See all PubMed Citations (8)

Details of each submission

From Invitae, SCV001590419.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This sequence change replaces serine with phenylalanine at codon 13 of the DES protein (p.Ser13Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant dilated cardiomyopathy and/or skeletal myopathy (PMID: 17720647, 26097489, 18061454, 19879535, 23349452). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 44260). This variant has been reported to affect DES protein function (PMID: 22403400, 19763525). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

Support Center