ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.530A>G (p.Asn177Ser)

dbSNP: rs61495052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056610 SCV003915077 pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Located in the highly conserved helix initiation motif of the alpha-helical rod domain, which is intolerant to change; variants in this motif interfere with proper keratin intermediate filament assembly and function, resulting in skin fragility and/or hyperkeratosis (Chamcheu et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing; This variant is associated with the following publications: (PMID: 21176769, 21375516, 15140024)
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056610 SCV000087723 not provided not provided no assertion provided not provided

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