ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.869del (p.Asn290fs)

dbSNP: rs766331452
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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 RCV000815207 SCV000955655 pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 658387). This variant has not been reported in the literature in individuals affected with CYP17A1-related conditions. This variant is present in population databases (rs766331452, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asn290Thrfs*7) 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).
Fulgent Genetics, Fulgent Genetics RCV002501117 SCV002808297 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2021-09-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV002501117 SCV004215434 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2022-12-26 criteria provided, single submitter clinical testing

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