ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) (rs61754278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185577 SCV000238477 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2015-06-10 no assertion criteria provided research The CYP17A1 variant (c.1040G>A; p.Arg347His) was identified in four patients (mostly homozygotes and one compound heterozygote) with ambiguous external genitalia and normal glucocorticoid levels. Multiple functional studies showed moderate to severe impaired lyase activity, with some residual activity preserving the 17-alpha hydroxylase function. This variant is considered a pathogenic variant.
OMIM RCV000001860 SCV000022016 pathogenic Isolated 17,20-lyase deficiency 2002-12-01 no assertion criteria provided literature only

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