ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4177A>G (p.Lys1393Glu) (rs371239754)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601030 SCV000711647 uncertain significance not specified 2018-01-22 criteria provided, single submitter clinical testing The p.Lys1393Glu variant in MYOM1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 0.09% (22/24006) of African ch romosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org; rs371239754). Computational prediction tools and conservation analysis s uggest that the p.Lys1393Glu variant may impact the protein, though this informa tion is not predictive enough to determine pathogenicity. In summary, the clinic al significance of the p.Lys1393Glu variant is uncertain. ACMG/AMP Criteria appl ied: BS1_Supporting, PP3.
Invitae RCV000628994 SCV000749904 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing

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