ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) (rs267606904)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171836 SCV000054814 uncertain significance Hypertrophic cardiomyopathy 2018-04-05 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037469 SCV000061127 uncertain significance not specified 2015-03-18 criteria provided, single submitter clinical testing The p.Gln1065His variant in MYH6 has been reported in 2 individuals with HCM (Ca rniel 2005, Ng 2013) and has been identified by our laboratory in 1 individual w ith HCM and 1 individual with LVNC. This variant has also been identified in 0.1 % (11/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs267606904). Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein although the variant amino acid is present in several specie s (birds), raising the possibility that the change may be tolerated. In summary, the clinical significance of the p.Gln1065His variant is uncertain.
Invitae RCV000845359 SCV000287403 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414926 SCV000492555 uncertain significance Primary dilated cardiomyopathy; Migraine; Hemiplegia 2014-11-24 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845359 SCV000987413 uncertain significance not provided criteria provided, single submitter clinical testing
Mendelics RCV000015212 SCV001139404 uncertain significance Familial hypertrophic cardiomyopathy 14 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000015212 SCV000035469 pathogenic Familial hypertrophic cardiomyopathy 14 2005-07-05 no assertion criteria provided literature only

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