ClinVar Miner

Submissions for variant NM_019856.2(MYOM1):c.624_641CACGGCATCCAGGCAGTC[1] (p.209_214TASRQS[1]) (rs754986396)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798067 SCV000937662 uncertain significance Hypertrophic cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing This variant, c.642_659delCACGGCATCCAGGCAGTC, results in the deletion of 6 amino acid(s) of the MYOM1 protein (p.Thr215_Ser220del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754986396, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with MYOM1-related disease. The p.Thr215_Ser220del amino acid deletion is found in multiple mammalian species, suggesting that this change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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