Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412363 | SCV000487148 | likely pathogenic | Sjögren-Larsson syndrome | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000804821 | SCV000944753 | pathogenic | not provided | 2023-04-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ALDH3A2 protein in which other variant(s) (p.Cys237Tyr) have been determined to be pathogenic (PMID: 10577908, 16903323, 20049467). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Studies have shown that disruption of this splice site results in skipping of exons 4-5, but is expected to preserve the integrity of the reading-frame (PMID: 10577908). ClinVar contains an entry for this variant (Variation ID: 371540). Disruption of this splice site has been observed in individual(s) with Sjogren-Larsson syndrome (PMID: 10577908). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects a splice site in intron 5 of the ALDH3A2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. |
Natera, |
RCV000412363 | SCV002093181 | pathogenic | Sjögren-Larsson syndrome | 2020-11-28 | no assertion criteria provided | clinical testing |