ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) (rs104894136)

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Total submissions: 4
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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).
OMIM RCV000001854 SCV000022010 pathogenic Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency 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.

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