ClinVar Miner

Submissions for variant NM_000432.3(MYL2):c.80A>G (p.Gln27Arg) (rs397516408)

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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 RCV000036410 SCV000060065 likely pathogenic Hypertrophic cardiomyopathy 2012-12-10 criteria provided, single submitter clinical testing The Gln27Arg variant in MYL2 has not been reported in the literature, but has be en identified in one individual with HCM previously tested by our laboratory and segregated with disease in one affected relative in this family (LMM unpublishe d data). This variant has also not been identified in large and broad European A merican and African American populations by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS); this low frequency is consistent with a disea se causing role but insufficient to establish this with confidence. Glutamine (G ln) at position 27 is highly conserved in mammals and across evolutionarily dist ant species and the change to Arginine (Arg) was predicted to be pathogenic usin g a computational tool clinically validated by our laboratory. This tool's patho genic prediction is estimated to be correct 94% of the time (Jordan 2011). In su mmary, this variant is likely to be pathogenic, though additional studies are re quired to fully establish its clinical significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845333 SCV000987379 likely pathogenic Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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