ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1668del (p.Trp556fs) (rs876657916)

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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 RCV000215047 SCV000272165 uncertain significance not specified 2015-08-03 criteria provided, single submitter clinical testing The p.Trp556fs variant in MYOM1 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies, though the abi lity of these studies to accurately detect indels may be limited. This variant i s predicted to cause a frameshift, which alters the protein's amino acid sequenc e beginning at position 556 and leads to a premature termination codon 9 amino a cids downstream. This alteration is then predicted to lead to a truncated or abs ent protein. Despite the predicted severe impact on the protein, the variant spe ctrum and mode of inheritance for the MYOM1 gene is not well understood. As a re sult, the clinical significance of the p.Trp556fs variant is uncertain.

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