ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4586A>G (p.Tyr1529Cys) (rs876657918)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220777 SCV000272175 uncertain significance not specified 2016-02-18 criteria provided, single submitter clinical testing The p.Tyr1529Cys variant in MYOM1 has not been previously reported in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis suggest that the p.Tyr1529Cys variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Tyr1529Cys variant is u ncertain.

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