ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.974T>C (p.Leu325Pro)

dbSNP: rs58107458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003398646 SCV004110056 likely pathogenic KRT5-related condition 2023-03-02 criteria provided, single submitter clinical testing The KRT5 c.974T>C variant is predicted to result in the amino acid substitution p.Leu325Pro. This variant has been previously reported, in the heterozygous state, in the affected members of a family with epidermolysis bullosa simplex, formerly known as Koebner type (EBS-K) (Sorensen et al. 1999. PubMed ID: 9989794), and one individual of Polish descent with epidermolysis bullosa simplex (Table 1, Wertheim-Tysarowska et al. 2016. PubMed ID: 26432462). Alternative nucleotide changes affecting the same amino acid (p.Leu325Phe and p.Leu325His) have also been reported in individuals with epidermolysis bullosa (Wertheim-Tysarowska et al. 2016. PubMed ID: 26432462; Vellarikkal et al. 2014. PubMed ID: 27081501). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056649 SCV000087762 not provided not provided no assertion provided not provided

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