Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794428 | SCV000933834 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 | 2018-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 623 of the SETX protein (p.Glu623Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs139200312, ExAC 0.02%). This variant has been observed in an individual affected with sporadic amyotrophic lateral sclerosis (PMID: 25382069). ClinVar contains an entry for this variant (Variation ID: 155743). 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: "Possibly 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. |
Northcott Neuroscience Laboratory, |
RCV000143814 | SCV000188707 | non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Benign. |