ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)

dbSNP: rs59243757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352782 SCV001547412 pathogenic Epidermolysis bullosa simplex 2009-05-15 criteria provided, single submitter research
GeneDx RCV000056548 SCV004035589 likely pathogenic not provided 2023-09-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17039244, 25017986)
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056548 SCV000087659 not provided not provided no assertion provided not provided

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