NM_001927.4(DES):c.735+1G>C AND Myofibrillar myopathy 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 5, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000150381.1

Allele description [Variation Report for NM_001927.4(DES):c.735+1G>C]

NM_001927.4(DES):c.735+1G>C

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.735+1G>C
HGVS:
  • NC_000002.12:g.219420347G>C
  • NG_008043.1:g.6971G>C
  • NM_001927.4:c.735+1G>CMANE SELECT
  • LRG_380t1:c.735+1G>C
  • LRG_380:g.6971G>C
  • NC_000002.11:g.220285069G>C
  • NM_001927.3:c.735+1G>C
Links:
dbSNP: rs397516698
NCBI 1000 Genomes Browser:
rs397516698
Molecular consequence:
  • NM_001927.4:c.735+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000197523Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Mar 5, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC.

Brain. 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14. Review.

PubMed [citation]
PMID:
14724127

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

Gudkova A, Kostareva A, Sjoberg G, Smolina N, Turalchuk M, Kuznetsova I, Rybakova M, Edstrom L, Shlyakhto E, Sejersen T.

Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7.

PubMed [citation]
PMID:
22484823
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000197523.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The 735+1G>C variant in DES has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant occurs in the invar iant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Another variant at t his position (735+1G>A) has been reported in 2 individuals with desminopathy (Re ported as IVS3+1G>A: Gudkova 2013 and Shatunov et al., unpublished data, reviewe d by Goldfarb 2004) and identified by our laboratory as a de novo occurrence in 1 individual with desminopathy. In summary, the 735+1G>C variant is likely patho genic, though additional studies are required to fully establish its clinical si gnificance.

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

Last Updated: Jul 7, 2021

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