NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) AND Primary dilated cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Jan 2, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035988.3

Allele description [Variation Report for NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)]

NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
Other names:
p.I201T:ATT>ACT
HGVS:
  • NC_000014.9:g.23431798A>G
  • NG_007884.1:g.8864T>C
  • NM_000257.4:c.602T>CMANE SELECT
  • NP_000248.2:p.Ile201Thr
  • LRG_384t1:c.602T>C
  • LRG_384:g.8864T>C
  • NC_000014.8:g.23901007A>G
  • NM_000257.2:c.602T>C
  • NM_000257.3:c.602T>C
  • P12883:p.Ile201Thr
  • c.602T>C
Protein change:
I201T
Links:
UniProtKB: P12883#VAR_042768; dbSNP: rs397516258
NCBI 1000 Genomes Browser:
rs397516258
Molecular consequence:
  • NM_000257.4:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
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
SCV000059640Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Jan 2, 2014)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided43not providednot providednot providedclinical testing

Citations

PubMed

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M.

Eur Heart J. 2005 Apr;26(8):794-803. Epub 2005 Mar 15.

PubMed [citation]
PMID:
15769782

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000059640.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (2)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided3not provided

Last Updated: Nov 27, 2021

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