ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1528_1554dup (p.Ser518_Ser519insGlyGlyGlyTyrGlyGlyGlySerSer)

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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 RCV003580537 SCV004329826 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.1528_1554dup, results in the insertion of 9 amino acid(s) of the KRT10 protein (p.Gly510_Ser518dup), but otherwise preserves the integrity of the reading frame. 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 RCV003909055 SCV004721263 likely benign KRT10-related disorder 2021-05-28 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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