ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.472T>G (p.Leu158Val) (rs145438764)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000480824 SCV000605100 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513524 SCV000615191 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513524 SCV000609358 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000480824 SCV000565556 uncertain significance not specified 2016-04-01 criteria provided, single submitter clinical testing The L158V variant in the SETX gene has been reported in an individual with Parkinson disease and second individual from a cohort of individuals with amyotrophic lateral sclerosis; however the further evidence to support the pathogenicity of this alteration was not provided in either report (Ghani et al., 2015; Cady et al., 2015). In addition, the NHLBI ESP Exome Sequencing Project reports L158V was observed in 47/8600 alleles (0.55%) from individuals of European American background; no individuals within this control group were reported as homozygous for this variant. The L158V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret L158V as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000350037 SCV000477889 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399144 SCV000477890 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531427 SCV000645266 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-12-17 criteria provided, single submitter clinical testing

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