ClinVar Miner

Submissions for variant NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)

gnomAD frequency: 0.00002  dbSNP: rs606231455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374896 SCV001572183 pathogenic Neurodevelopmental disorder 2020-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514854 SCV003522731 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 161196). This missense change has been observed in individual(s) with autosomal dominant spinocerebellar ataxia (PMID: 25070513). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 171 of the TMEM240 protein (p.Arg171Trp).
OMIM RCV000148348 SCV000195812 pathogenic Spinocerebellar ataxia type 21 2014-10-01 no assertion criteria provided literature only

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