ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)

dbSNP: rs1554162301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504460 SCV000594545 likely pathogenic Spinocerebellar ataxia type 34 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV001662494 SCV001874900 likely pathogenic not provided 2025-05-07 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, 38850484, 39104105)
Labcorp Genetics (formerly Invitae), Labcorp RCV001662494 SCV002131483 pathogenic not provided 2022-07-14 criteria provided, single submitter clinical testing 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"). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 435057). 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). This variant is not present in population databases (gnomAD no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV005034041 SCV005671876 likely pathogenic Spinocerebellar ataxia type 34; Stargardt disease 3; Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 2024-03-20 criteria provided, single submitter clinical testing

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