ClinVar Miner

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

dbSNP: 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 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 (https://www.cardioclassifier.org) 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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