ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser)

gnomAD frequency: 0.00004  dbSNP: rs377358943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585096 SCV001811287 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV003298940 SCV004009668 uncertain significance Arthrogryposis multiplex congenita 5 criteria provided, single submitter research
Invitae RCV003586299 SCV004267369 uncertain significance Dystonic disorder 2023-04-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs377358943, gnomAD 0.01%). 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) performed at Invitae indicates that this missense variant is expected to disrupt TOR1A protein function. ClinVar contains an entry for this variant (Variation ID: 1212505). This variant has not been reported in the literature in individuals affected with TOR1A-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 240 of the TOR1A protein (p.Leu240Ser).

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