ClinVar Miner

Submissions for variant NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)

dbSNP: rs57536312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000003136 SCV002022618 likely pathogenic Palmoplantar keratoderma, epidermolytic 2021-05-26 criteria provided, single submitter clinical testing
3billion RCV000003136 SCV002058972 likely pathogenic Palmoplantar keratoderma, epidermolytic 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with KRT9 related disorder (ClinVar ID: VCV000003000, PMID:7512862, PS1_P). The variant is located in a well-established functional domain or exonic hotspot, where pathogenic variants have frequently reported (PM1_M). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000003003, PMID:7523529,7511021,12192490,14675368, PM5_M).T In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.646, 3CNET: 0.992, PP3_P). A missense variant is a common mechanism associated with Palmoplantar keratoderma (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). herefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV004562189 SCV000023294 pathogenic Epidermolytic palmoplantar keratoderma, 1 2003-07-30 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056463 SCV000087572 not provided not provided no assertion provided not provided

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