ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.476_479del (p.Ile159fs) (rs876657920)

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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 RCV000217418 SCV000272177 uncertain significance not specified 2015-06-03 criteria provided, single submitter clinical testing The p.Ile159fs variant in MYOM1 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 159 and leads to a premature termination codon 7 amino acids downstrea m. This alteration is then predicted to lead to a truncated or absent protein. D espite the predicted severe impact on the protein, the spectrum of pathogenic va riants of MYOM1 as well as the mode of inheritance is currently not well underst ood. As a result, the clinical significance of the p.Ile159fs variant is uncerta in.

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