Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
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 |