ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.502G>A (p.Glu168Lys)

dbSNP: rs58619430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056601 SCV000321833 pathogenic not provided 2024-05-23 criteria provided, single submitter clinical testing Located in the highly conserved head domain of KRT5, which is intolerant to change; variants in this region interfere with proper keratin intermediate filament assembly and function, resulting in skin fragility and/or hyperkeratosis (PMID: 21176769); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16786515, 23450297, 36809127)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000056601 SCV001446718 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000056601 SCV002016401 pathogenic not provided 2021-07-20 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056601 SCV000087714 not provided not provided no assertion provided not provided

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