ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.529A>T (p.Asn177Tyr)

dbSNP: rs1938679596
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808117 SCV002058600 likely pathogenic Epidermolysis bullosa simplex 1A, generalized severe 2022-01-03 criteria provided, single submitter clinical testing 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 to be associated with KRT5 related disorder (PMID:15140024, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.884, 3CNET: 0.978, PP3_P). A missense variant is a common mechanism associated with Epidermolysis bullosa simplex (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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