Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666849 | SCV000791210 | likely pathogenic | Sjögren-Larsson syndrome | 2017-05-02 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000666849 | SCV003800744 | likely pathogenic | Sjögren-Larsson syndrome | 2023-01-19 | criteria provided, single submitter | clinical testing | Variant summary: ALDH3A2 c.1A>T (p.Met1?, aka p.Met1Leu) alters the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon. The first potential downstream in-frame start codon (ATG) is located in the same exon, at Met33. Several other start-lost variants, and truncations upstream from Met33 have been reported in individuals affected with Sjogren-Larsson Syndrome (HGMD). The variant was absent in 201014 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1A>T in individuals affected with Sjogren-Larsson Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |