ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.1161_1165del (p.Cys389fs)

dbSNP: rs1597798429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008278 SCV001168045 likely pathogenic not provided 2021-08-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation, as the last 84 amino acids are replaced with 91 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD)

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