ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.177del (p.Lys59fs)

dbSNP: rs1402132413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003085531 SCV003462130 pathogenic not provided 2023-07-17 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: 2153178). This variant has not been reported in the literature in individuals affected with CYP17A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys59Asnfs*16) 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 RCV003465949 SCV004215432 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-01-25 criteria provided, single submitter clinical testing

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