ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.510_512CAA[2] (p.Asn172del) (rs606231214)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057012 SCV000321837 pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing The c.516_518delCAA variant in the KRT6A gene is the most common pathogenic variant reported in association with KRT6A-related pachyonychia congenita, sometimes using the alternate nomenclature of N171del or N172del (Lin et al., 1999; Terrinoni et al., 2001; Lv et al., 2009; Haber et al., 2011; Pho et al., 2011; Wilson et al., 2011; Wilson et al., 2014). This deletion of three nucleotides removes a highly conserved Asparagine residue from the 1A helical domain of the KRT6A protein, denoted p.Asn172del (Bowden et al., 1995). The c.516_518delCAA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.516_518delCAA as a pathogenic variant.
OMIM RCV000015740 SCV000036005 pathogenic Pachyonychia congenita 3 2005-10-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057012 SCV000088125 not provided not provided no assertion provided not provided
GeneReviews RCV000015740 SCV000172480 pathogenic Pachyonychia congenita 3 2014-07-24 no assertion criteria provided literature only

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