ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.560A>G (p.Asn187Ser) (rs397516249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035972 SCV000059624 uncertain significance not specified 2017-01-25 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000035972 SCV000280369 uncertain significance not specified 2015-05-27 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Asn187Ser (c.560 A>G) in the MYH7 gene. The variant is still novel (as of January 6th, 2015). This is a conservative amino acid change with a neutral, polar serine replaced with a neutral, polar asparagine. The serine at position 187 is highly conserved across species. In silico analysis by LMM using the recently developed sarcomere-specific PolyPhen2 predicts the variant to be pathogenic. This tool has a reported accuracy of 94% when predicting a variant to be pathogenic (Jordan et al 2011). Another variant at this codon (p.Asn187Lys), and other variants in surrounding codons (p.Val186Leu, p.Thr188Asn, p.Arg190Thr, p.Ala196Thr) have been reported in association with cardiomyopathy. There is no variation at codon 187 listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of January 6th, 2015).

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