ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)

dbSNP: rs267607448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056559 SCV000329386 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20199538, 27884173, 25017986, 31001817, 31589614)
Illumina Laboratory Services, Illumina RCV001115027 SCV001272962 uncertain significance Epidermolysis bullosa simplex 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197761 SCV001368540 uncertain significance Epidermolysis bullosa simplex, Koebner type 2020-02-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Baylor Genetics RCV001332429 SCV001524757 uncertain significance Epidermolysis bullosa simplex 1C, localized 2019-08-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056559 SCV000087670 not provided not provided no assertion provided not provided

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