ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) (rs104894135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763211 SCV000893834 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000288112 SCV000329841 pathogenic not provided 2016-10-13 criteria provided, single submitter clinical testing The S106P missense pathogenic variant in the CYP17A1 gene has been reported previously in association with 17-hydroxylase deficiency (Lin et al., 1991; Wong et al., 2006). S106P was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S106P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species, and functional studies have shown that S106P causes decreased 17-hydroxylase activity (Lin et al., 1991).
OMIM RCV000001852 SCV000022008 pathogenic Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency 1992-05-01 no assertion criteria provided literature only

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