ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.1376G>C (p.Arg459Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690911 SCV005184491 likely pathogenic Vitamin D-dependent rickets, type 1A 2024-05-31 criteria provided, single submitter clinical testing Variant summary: CYP27B1 c.1376G>C (p.Arg459Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251430 control chromosomes. To our knowledge, no occurrence of c.1376G>C in individuals affected with Vitamin D-dependent rickets and no experimental evidence demonstrating its impact on protein function have been reported. A different variant affecting the same codon has been classified as pathogenic by our lab (c.1376G>T, p.Arg459Leu), and another is classified on the pathogenic spectrum in ClinVar (c.1375C>T,p.Arg459Cys) supporting the critical relevance of codon 459 to CYP27B1 protein function. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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