Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |