ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.327dup (p.Lys110Ter)

dbSNP: rs2493243250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318180 SCV004021672 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29595516, 22309630, 19728179, 21822006)
Labcorp Genetics (formerly Invitae), Labcorp RCV003318180 SCV004295708 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys110*) in the CYP17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP17A1 are known to be pathogenic (PMID: 10720067, 14747197, 17192295, 20197673, 24140098). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CYP17A1-related conditions (PMID: 21822006). ClinVar contains an entry for this variant (Variation ID: 2573844). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004572922 SCV005059311 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-11-20 criteria provided, single submitter clinical testing

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