ClinVar Miner

Submissions for variant NM_024514.5(CYP2R1):c.628_629del (p.Met210fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002626407 SCV002961088 pathogenic not provided 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met210Aspfs*2) in the CYP2R1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP2R1 are known to be pathogenic (PMID: 15128933, 22855339, 25942481, 33715104). This variant is present in population databases (rs782242126, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CYP2R1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1929675). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects CYP2R1 function (PMID: 32115644). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005042926 SCV005676545 likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B 2024-01-06 criteria provided, single submitter clinical testing

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