ClinVar Miner

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

dbSNP: 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, Mass General Brigham 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 Hypertrophic cardiomyopathy 10 2022-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. An algorithm developed specifically for the MYL2 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). ClinVar contains an entry for this variant (Variation ID: 155818). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 24793961, 27532257; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 80 of the MYL2 protein (p.Thr80Asn).
Blueprint Genetics RCV000143928 SCV000188806 likely pathogenic Primary familial hypertrophic cardiomyopathy 2013-10-03 no assertion criteria provided clinical testing

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