Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000056513 | SCV000321827 | pathogenic | not provided | 2022-07-10 | criteria provided, single submitter | clinical testing | Located within the helix initiation in 1A domain that is intolerant of change; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22336949, 31823354, 9767294, 29218738, 26165312, 25946540) |
Ce |
RCV000056513 | SCV002063611 | pathogenic | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000056513 | SCV003441855 | pathogenic | not provided | 2022-06-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 14591). This missense change has been observed in individuals with pachyonychia congenita and/or steatocystoma multiplex (PMID: 9767294, 25946540, 26165312, 29218738, 31823354). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs58730926, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 94 of the KRT17 protein (p.Arg94Cys). |
OMIM | RCV000015694 | SCV000035959 | pathogenic | Steatocystoma multiplex | 1998-09-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056513 | SCV000087624 | not provided | not provided | no assertion provided | not provided | ||
OMIM | RCV000114415 | SCV000148347 | pathogenic | Pachyonychia congenita 2 | 1998-09-01 | no assertion criteria provided | literature only |