Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443814 | SCV000536042 | uncertain significance | not provided | 2017-01-20 | criteria provided, single submitter | clinical testing | The V1662M variant in the HCFC1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1662M variant was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The V1662M 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 is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1662M as a variant of uncertain significance. |
Invitae | RCV003522979 | SCV004321316 | likely benign | Methylmalonic acidemia with homocystinuria, type cblX | 2023-06-25 | criteria provided, single submitter | clinical testing |