ClinVar Miner

Submissions for variant NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)

dbSNP: rs1422405747
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548323 SCV001768213 pathogenic not provided 2022-10-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30919572, 22855339)
Revvity Omics, Revvity RCV001254776 SCV002018131 pathogenic Vitamin D hydroxylation-deficient rickets, type 1B 2020-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001254776 SCV002808711 pathogenic Vitamin D hydroxylation-deficient rickets, type 1B 2021-07-07 criteria provided, single submitter clinical testing
OMIM RCV001254776 SCV001430878 pathogenic Vitamin D hydroxylation-deficient rickets, type 1B 2012-10-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003416131 SCV004107046 pathogenic CYP2R1-related disorder 2024-03-26 no assertion criteria provided clinical testing The CYP2R1 c.768dupT variant is predicted to result in a frameshift and premature protein termination (p.Leu257Serfs*6). This variant has been reported in the compound heterozygous state with a CYP2R1 splice variant in two siblings with 25-hydroxyvitamin D deficiency (Al Mutair et al. 2012. PubMed ID: 22855339). The c.768dupT variant has also been reported in the compound heterozygous or homozygous state in many additional individuals with clinical features of 25-hydroxyvitamin D deficiency (Reported as p.L257fsX6 in Al-Dewik et al. 2019. PubMed ID: 30919572; Bakhamis et al. 2021. PubMed ID: 34137732). This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. Frameshift variants in CYP2R1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001254776 SCV004806308 uncertain significance Vitamin D hydroxylation-deficient rickets, type 1B 2024-03-25 flagged submission clinical testing

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