Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169091 | SCV000220275 | likely pathogenic | Sjögren-Larsson syndrome | 2014-04-29 | criteria provided, single submitter | literature only | |
Gene |
RCV000427449 | SCV000516604 | pathogenic | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect (<1% residual enzyme activity) (Rizzo et al., 1999); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10577908, 11408337, 15931689, 19124283, 29302074, 32395410, 29181214) |
Invitae | RCV000427449 | SCV000941834 | pathogenic | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 184 of the ALDH3A2 protein (p.Thr184Met). This variant is present in population databases (rs72547562, gnomAD 0.005%). This missense change has been observed in individuals with Sjogren-Larsson syndrome (PMID: 10577908, 11408337, 17998529). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 188768). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALDH3A2 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ALDH3A2 function (PMID: 10577908). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000169091 | SCV001163408 | pathogenic | Sjögren-Larsson syndrome | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV000169091 | SCV002024251 | pathogenic | Sjögren-Larsson syndrome | 2019-06-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000169091 | SCV001459271 | pathogenic | Sjögren-Larsson syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |