ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3347G>A (p.Arg1116His) (rs369247906)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000443494 SCV000287406 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251514 SCV000319927 uncertain significance Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000443494 SCV000535687 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The R1116H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue (R1116S) has been reported in the Human Gene Mutation Database in association with congenital heart defects (Stenson et al., 2014); however, the pathogenicity of this variant has not been definitively determined. Finally, the R1116H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623582 SCV000740619 uncertain significance Primary familial hypertrophic cardiomyopathy 2017-02-11 criteria provided, single submitter clinical testing

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