Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497370 | SCV000589643 | likely pathogenic | not provided | 2015-12-30 | criteria provided, single submitter | clinical testing | The c.292 G>A variant has been previously reported in association with methionine adenosyltransferase I/III (MAT I/III) deficiency in an affected patient homozygous for the variant (Chamberlin et al., 2000). Protein expression with the p.G98S missense change in COS cells showed no altered enzyme activity; however, splicing studies found that the c.292 G>A change caused abnormal splicing of the protein. The c.292 G>A variant is predicted to reduce the quality of the natural splice donor site in exon 3. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |