ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.67dup (p.His23fs)

dbSNP: rs1559384522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008477 SCV001168248 likely pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing The c.67dupC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.67dupC variant causes a frameshift starting with codon Histidine 23, changes this amino acid to a Proline residue and creates a premature Stop codon at position 158 of the new reading frame, denoted p.His23ProfsX158. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.67dupC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp RCV001203126 SCV001374273 pathogenic Cholestanol storage disease 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 817356). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.His23Profs*158) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392).
Baylor Genetics RCV001203126 SCV004190826 pathogenic Cholestanol storage disease 2023-12-14 criteria provided, single submitter clinical testing

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