ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)

dbSNP: rs2134082367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387554 SCV001588219 pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1074306). This premature translational stop signal has been observed in individual(s) with CYP17A1-related conditions (PMID: 18422032, 21966534). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg358*) 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).
Baylor Genetics RCV001826177 SCV005059302 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2024-02-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826177 SCV002086169 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2021-03-23 no assertion criteria provided clinical testing

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