ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) (rs587782965)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844710 SCV000204189 likely pathogenic Hypertrophic cardiomyopathy 2013-01-23 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000542482 SCV000638391 pathogenic Familial hypertrophic cardiomyopathy 10 2018-03-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 80 of the MYL2 protein (p.Thr80Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (rs587782965, ExAC no frequency). This variant has been reported in several unrelated individuals affected with hypertrophic cardiomyopathy (PMID: 24793961, 27532257, Invitae). ClinVar contains an entry for this variant (Variation ID: 155818). A computational algorithm designed to assess the pathogenicity of variants in MYL2 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000143928 SCV000188806 likely pathogenic Primary familial hypertrophic cardiomyopathy 2013-10-03 no assertion criteria provided clinical testing

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