ClinVar Miner

Submissions for variant NM_000432.3(MYL2):c.260G>C (p.Gly87Ala) (rs397516399)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484012 SCV000574010 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing The G87A variant of uncertain significance in the MYL2 gene has not been published as pathogenic or been reported as benign to our knowledge. The G87A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the G87A variant. Furthermore, the G87A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036387 SCV000060042 likely pathogenic Hypertrophic cardiomyopathy 2017-02-16 criteria provided, single submitter clinical testing The p.Gly87Ala variant in MYL2 has been identified by our laboratory in 2 indivi duals with HCM and segregated with disease in 4 affected relatives. It has not b een identified in large population studies. This variant was predicted to be pat hogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, although additional studies are required to fully establish i ts clinical significance, the p.Gly87Ala variant is likely pathogenic.

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