ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[3] (p.Gly512_Tyr513insSerSerGlyGlyGly)

dbSNP: rs570853437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002904027 SCV003253052 uncertain significance not provided 2024-12-29 criteria provided, single submitter clinical testing This variant, c.1521_1535dup, results in the insertion of 5 amino acid(s) of the KRT10 protein (p.Ser508_Gly512dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with KRT10-related conditions. 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.
PreventionGenetics, part of Exact Sciences RCV003961190 SCV004775537 likely benign KRT10-related disorder 2020-09-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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