ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.1034C>G (p.Ser345Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208370 SCV005849388 likely pathogenic Vitamin D-dependent rickets, type 1A 2023-06-22 criteria provided, single submitter clinical testing The observed stop gained c.1034C>G(p.Ser345Ter) variant in CYP27B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Loss of function variants have been previously reported to be disease causing (Kim et al., 2007). Computational evidence (MutationTaster - Disease causing automatic) predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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