ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1900+3A>C (rs77613865)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217695 SCV000269348 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 1900+3A>C in intron 13 of MYOM1: This variant is not expected to have clinical s ignificance because it has been identified in 1.7% (73/4268) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs77613865).
Invitae RCV000157649 SCV000287988 benign Hypertrophic cardiomyopathy 2018-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621265 SCV000739836 benign Cardiovascular phenotype 2013-05-20 criteria provided, single submitter clinical testing
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd RCV000157649 SCV000195854 likely pathogenic Hypertrophic cardiomyopathy 2014-06-12 no assertion criteria provided clinical testing This MYOM1 splice site variant c.1900+3A>C was found homozygously in a 3 year old female child suffering from hypertrophic cardiomyopathy. The change is likely to result in a shorter protein of 644 amino acids. This truncated protein lacks the the fibronectin type III and Ig-like C2-type domains, region which mainly play a role in dimerization, implying an altered dimerization of the protein. A missense variant that affects the dimerization of domain 13 has been reported to be involved in the pathogenesis of Hypertrophic cardiomyopathy (HCM) (PMID: 21256114).

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