Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
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 | |
Genome |
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, |
RCV000709946 | SCV002086800 | pathogenic | Deficiency of steroid 17-alpha-monooxygenase | 2020-09-15 | no assertion criteria provided | clinical testing |