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NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly) AND Hypertrophic cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 9, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000614191.4

Allele description [Variation Report for NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly)]

NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly)

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.1207C>G (p.Arg403Gly)
HGVS:
  • NC_000014.9:g.23429279G>C
  • NG_007884.1:g.11383C>G
  • NM_000257.4:c.1207C>GMANE SELECT
  • NP_000248.2:p.Arg403Gly
  • LRG_384t1:c.1207C>G
  • LRG_384:g.11383C>G
  • NC_000014.8:g.23898488G>C
  • NM_000257.2:c.1207C>G
Protein change:
R403G
Links:
dbSNP: rs3218714
NCBI 1000 Genomes Browser:
rs3218714
Molecular consequence:
  • NM_000257.4:c.1207C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000712859Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Jan 9, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

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, Mass General Brigham Personalized Medicine, SCV000712859.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The p.Arg403Gly variant in MYH7 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Arg403Gly variant may impact the protein, though this information is not predictive enough to determine pathogen icity. In addition, two other variants at this position, p.Arg403Trp and p.Arg40 3Gln, have been categorized as pathogenic by our laboratory, suggesting that cha nges at this position are not tolerated. Of note, this variant lies in the head region of the protein. Missense variants in this region have been reported and s tatistically indicated to be more likely to cause disease (Walsh 2016). In summ ary, although additional studies are required to fully establish its clinical si gnificance, the p.Arg403Gly variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Dec 24, 2022