Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179376 | SCV000231614 | uncertain significance | not provided | 2015-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000702587 | SCV000831446 | uncertain significance | Pyridoxine-dependent epilepsy | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 193 of the ALDH7A1 protein (p.Ala193Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs773503933, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 198127). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV000702587 | SCV004049727 | uncertain significance | Pyridoxine-dependent epilepsy | 2023-04-11 | criteria provided, single submitter | clinical testing |