ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu) (rs1566535410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000709616 SCV000812280 likely pathogenic Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 2018-09-30 criteria provided, single submitter research The p.K397E variant was not found in population databases (PM2 criteria); multiple lines of computational evidence support a deleterious effect on gene/gene product (PP3 criteria). Also the p.K397E variant was detected in two affected family members (PP1 criteria) and is located in well-studied functional domain without benign variation. According to Cardioclassifier ( analysis, the p.K397E variant is located within the HCM cluster of MYH7 where variants, when found in a case, are highly likely to be pathogenic. The etiological fraction (EF, the prior probability that a variant, identified in a case, is pathogenic) for the p.K397E variant is 0.97. Because 2 moderate and 2 supporting criteria are present, we consider the p.K397E variant to be likely pathogenic.

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