ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) (rs727504753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156061 SCV000205774 uncertain significance not specified 2013-08-29 criteria provided, single submitter clinical testing The Ala381Thr variant in MYH7 has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the normal function of the protein. At this time, additional information is needed to fully assess the clin ical significance of the Ala381Thr variant.
Baylor Genetics RCV000850503 SCV000992705 likely pathogenic Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 2018-10-12 criteria provided, single submitter clinical testing

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