Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000190334 | SCV000388395 | uncertain significance | Methylmalonate semialdehyde dehydrogenase deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | The ALDH6A1 c.1603C>T (p.Arg535Cys) variant has been reported in one study in which it is found in a compound heterozygous state with a second missense variant in one patient with methylmalonate semialdehyde dehydrogenase deficiency (Marcadier et al. 2013). The p.Arg535Cys variant is also found in a heterozygous state in one unaffected parent. Control data are unavailable for this variant, which is reported at a frequency of 0.00012 in the European American population of the Exome Sequencing Project but this is based on one allele only in a region of good seqeunce coverage and is presumed to be rare. The Arg535 residue is noted to be highly conserved across mammals. Based on the limited evidence, the p.Arg535Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for methylmalonate semialdehyde dehydrogenase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| OMIM | RCV000190334 | SCV000243866 | pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency | 2013-07-09 | no assertion criteria provided | literature only |