ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)

gnomAD frequency: 0.00004  dbSNP: rs556536964
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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, Mass General Brigham Personalized Medicine RCV000217535 SCV000272016 uncertain significance not specified 2015-10-01 criteria provided, single submitter clinical testing The p.Ala446Thr variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.14% (12/8654) of East Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; rs556536964). Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Ala446Thr variant is uncertain.
Ambry Genetics RCV000248354 SCV000319792 likely benign Cardiovascular phenotype 2021-08-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001320565 SCV001511356 likely benign Hypertrophic cardiomyopathy 14 2024-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494569 SCV002775251 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2022-01-17 criteria provided, single submitter clinical testing

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