ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) (rs75487328)

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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 RCV000037454 SCV000061112 uncertain significance not specified 2012-04-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile801Val varia nt (MYH6) has not been reported in the literature nor previously identified by o ur laboratory. Computational analyses (biochemical amino acid properties, conser vation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ile801Val variant may n ot impact the protein, though this information is not predictive enough to rule out pathogenicity. Of note, the chicken carries a valine (Val) at this position, suggesting that this change may be tolerated. Although this data supports that this variant may be benign, additional studies are needed to fully assess its cl inical significance.
Ambry Genetics RCV000618074 SCV000739998 likely benign Cardiovascular phenotype 2016-08-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256734 SCV001433140 uncertain significance Dilated cardiomyopathy 1A 2019-12-30 criteria provided, single submitter clinical testing

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