ClinVar Miner

Submissions for variant NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)

gnomAD frequency: 0.00001  dbSNP: rs58730926
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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)
CeGaT Center for Human Genetics Tuebingen 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, Singapore 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

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