ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)

dbSNP: rs104894136
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497599 SCV000589609 pathogenic not provided 2017-06-05 criteria provided, single submitter clinical testing The R239X pathogenic variant has been published previously in patients who were homozygous for the R239X variant (Escamilla-Marquez et al., 2012) or compound heterozygous for the R239X variant and another variant in the CYP17A1 gene (Ahlgren et al., 1992; Paris et al., 2016). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Functional studies have shown R239X results in a complete loss of 17 a-hydroxylase and 17,20-lyase activity (Paris et al., 2016).
Labcorp Genetics (formerly Invitae), Labcorp RCV000497599 SCV001588221 pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg239*) 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 individuals with CYP17A1-related condition (PMID: 1740503, 22309630, 26845730, 29345162). ClinVar contains an entry for this variant (Variation ID: 1782).
Baylor Genetics RCV000709946 SCV004215399 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-08-16 criteria provided, single submitter clinical testing
OMIM RCV000001854 SCV000022010 pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial 2005-10-01 no assertion criteria provided literature only
OMIM RCV000001855 SCV000022011 risk factor Breast cancer, susceptibility to 2005-10-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000709946 SCV000840306 not provided Deficiency of steroid 17-alpha-monooxygenase no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc. RCV000709946 SCV002086800 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2020-09-15 no assertion criteria provided clinical testing

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