ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)

gnomAD frequency: 0.00006  dbSNP: rs727502811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269843 SCV001450144 pathogenic not provided 2015-10-21 criteria provided, single submitter clinical testing
Invitae RCV003586144 SCV004271058 likely pathogenic Dystonic disorder 2023-05-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 288 of the TOR1A protein (p.Arg288Gln). This variant is present in population databases (rs727502811, gnomAD 0.03%). This missense change has been observed in individuals with autosomal dominant dystonia (PMID: 18477710, 31321303). ClinVar contains an entry for this variant (Variation ID: 162491). 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) performed at Invitae indicates that this missense variant is not expected to disrupt TOR1A protein function. Experimental studies have shown that this missense change affects TOR1A function (PMID: 18477710, 24930953, 32243914). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000149874 SCV000196728 pathogenic Early-onset generalized limb-onset dystonia 2014-09-01 no assertion criteria provided literature only
GeneReviews RCV000149874 SCV000328701 not provided Early-onset generalized limb-onset dystonia no assertion provided literature only

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