Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002515947 | SCV003441468 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2022-10-25 | criteria provided, single submitter | clinical testing | 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SETX protein function. ClinVar contains an entry for this variant (Variation ID: 157524). This missense change has been observed in individuals with clinical features of autosomal recessive spinocerebellar ataxia (PMID: 19696032, 25025039; Invitae). This variant is present in population databases (rs148041889, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2264 of the SETX protein (p.Ile2264Met). |
Dept. |
RCV000144866 | SCV000172137 | uncertain significance | Charcot-Marie-Tooth disease | 2013-11-01 | no assertion criteria provided | research |