Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435077 | SCV000534796 | uncertain significance | not provided | 2016-12-22 | criteria provided, single submitter | clinical testing | The A149V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A149V variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project Consortium reports A149V was observed in 4/226 alleles from individuals of Gambian background. The A149V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001081253 | SCV001042127 | likely benign | Methylcobalamin deficiency type cblE | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001081253 | SCV003811480 | uncertain significance | Methylcobalamin deficiency type cblE | 2022-04-19 | criteria provided, single submitter | clinical testing |