ClinVar Miner

Submissions for variant NM_000096.4(CP):c.376_379del (p.Tyr126fs)

dbSNP: rs2108301637
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383523 SCV001582674 pathogenic Deficiency of ferroxidase 2021-01-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CP are known to be pathogenic (PMID: 16629161). This variant has not been reported in the literature in individuals with CP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr126Ilefs*49) in the CP gene. It is expected to result in an absent or disrupted protein product.

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