ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1681_1683dup (p.Ser563dup)

dbSNP: rs1555548360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001885112 SCV002009173 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885112 SCV002223737 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing This variant, c.1681_1683dup, results in the insertion of 1 amino acid(s) of the KRT10 protein (p.Ser563dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KRT10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1319423). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001885112 SCV005326846 uncertain significance not provided 2024-03-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD)

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