ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)

dbSNP: rs1060499582
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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 RCV001387553 SCV001588218 pathogenic not provided 2024-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys388*) 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 17alpha-hydroxylase deficiency (PMID: 15844475). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 417889). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000477958 SCV004215397 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-09-02 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477958 SCV000536782 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2016-08-16 no assertion criteria provided research

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