ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) (rs148604312)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515884 SCV000574506 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
Athena Diagnostics Inc RCV000518158 SCV000615183 uncertain significance not specified 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV000560688 SCV000645254 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-05-11 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1276 of the SETX protein (p.Gln1276Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs148604312, ExAC 0.04%) but has not been reported in the literature in individuals with a SETX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000560688 SCV000895960 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2018-10-31 criteria provided, single submitter clinical testing

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