ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)

dbSNP: rs1057520815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443114 SCV000518180 pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing The G102E pathogenic variant in the CYP27B1 gene has been reported previously in six individuals from a largeconsanguineous family with a progressive form of rickets and growth retardation (Alzahrani et al., 2010). Functionalstudies of G102E demonstrated a significant reduction in enzyme activity (Alzahrani et al., 2010). The G102E variantwas not observed (average read depth 7.0) in approximately 6300 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. The G102E variant is a non-conservative amino acid substitution, which occurs at a position that isconserved across species. We interpret G102E as a pathogenic variant.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723316 SCV000854708 pathogenic Vitamin D-dependent rickets, type 1 2018-06-05 no assertion criteria provided clinical testing

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