Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000525342 | SCV000631990 | likely benign | Succinate-semialdehyde dehydrogenase deficiency | 2024-01-27 | criteria provided, single submitter | clinical testing | |
| Clinical Molecular Genetics Laboratory, |
RCV000678774 | SCV000804953 | uncertain significance | Seizure | 2017-04-04 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000525342 | SCV001317094 | likely benign | Succinate-semialdehyde dehydrogenase deficiency | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Gene |
RCV001591209 | SCV001824832 | likely benign | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987589 | SCV004803988 | uncertain significance | not specified | 2024-01-30 | criteria provided, single submitter | clinical testing | Variant summary: ALDH5A1 c.13A>G (p.Ile5Val) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00023 in 85416 control chromosomes, predominantly at a frequency of 0.0028 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.13A>G in individuals affected with Succinic Semialdehyde Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 459979). Based on the evidence outlined above, the variant was classified as uncertain significance. |