NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) AND Primary dilated cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 15, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000487436.9

Allele description [Variation Report for NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)]

NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)

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.5401G>A (p.Glu1801Lys)
Other names:
p.E1801K:GAG>AAG; NM_000257.3(MYH7):c.5401G>A
HGVS:
  • NC_000014.9:g.23415153C>T
  • NG_007884.1:g.25509G>A
  • NM_000257.4:c.5401G>AMANE SELECT
  • NP_000248.2:p.Glu1801Lys
  • LRG_384t1:c.5401G>A
  • LRG_384:g.25509G>A
  • LRG_384p1:p.Glu1801Lys
  • NC_000014.8:g.23884362C>T
  • NM_000257.2:c.5401G>A
  • NM_000257.3:c.5401G>A
  • c.5401G>A
Protein change:
E1801K
Links:
dbSNP: rs397516248
NCBI 1000 Genomes Browser:
rs397516248
Molecular consequence:
  • NM_000257.4:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000564459ClinGen Cardiomyopathy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CMP ACMG Specifications v1)		Likely pathogenic
(Dec 15, 2016) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

Udd B.

Neuromuscul Disord. 2009 Jun;19(6):429-38. doi: 10.1016/j.nmd.2009.04.002. Epub 2009 May 27. No abstract available.

PubMed [citation]
PMID:
19477645

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, et al.

Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4.

PubMed [citation]
PMID:
29300372
PMCID:
PMC5876064

Details of each submission

From ClinGen Cardiomyopathy Variant Curation Expert Panel, SCV000564459.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

The c.5401G>A (p.Glu1801Lys) variant in MYH7 has been reported in 4 individuals with dilated cardiomyopathy, one of whom had additional myopathy features (PS4_Supporting; PMID:19477645; Partners LMM ClinVar SCV000059616.5). Additionally, in two of the probands with dilated cardiomyopathy, the variant occurred de novo (PM6; Partners LMM ClinVar SCV000059616.5). This variant was absent from large population studies (PM2; http://exac.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for dilated cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PM2; PM6; PP3; PS4_ Supporting

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

Last Updated: May 1, 2024