ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter)

gnomAD frequency: 0.00001  dbSNP: rs777947329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190576 SCV000245596 likely pathogenic Hypercalcemia, infantile, 1 2014-12-18 criteria provided, single submitter clinical testing The p.Gln347X variant in CYP24A1 has not been previously reported in individuals with disease. It has been identified in 1/67868 Eurpoean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). This nonsense variant leads to a premature termination codon at position 347 which is predicted to lead to a truncated or absent protein. Loss-of-function variants in the CYP24A1 gene have been shown to cause autosomal recessive infantile hypercalcemia. In summary, although additional studies are required to fully establish its clinical significance, the p.Gln347X variant in CYP24A1 is likely pathogenic.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000785820 SCV000924392 pathogenic not provided 2015-03-13 criteria provided, single submitter clinical testing

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