Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504460 | SCV000594545 | likely pathogenic | Spinocerebellar ataxia type 34 | 2017-06-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662494 | SCV001874900 | likely pathogenic | not provided | 2023-06-21 | criteria provided, single submitter | clinical testing | 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: 32780351, 33655653, 33816655, 31692161, 28559085, 29915382, 34689836, 34227061, 31750392, 34839010, 33556440, 36464075, 36696030, 36339301, 36748939, 37199746) |
Invitae | RCV001662494 | SCV002131483 | pathogenic | not provided | 2022-07-14 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with autosomal dominant spinocerebellar ataxia and retinal disease (PMID: 28559085, 31692161, 31750392). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 171 of the ELOVL4 protein (p.Ile171Thr). ClinVar contains an entry for this variant (Variation ID: 435057). For these reasons, this variant has been classified as Pathogenic. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |