ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) (rs150532677)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540061 SCV000645241 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-12-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762582 SCV000892915 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000762582 SCV001145538 likely benign not provided 2018-09-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000648 SCV001157672 uncertain significance not specified 2018-10-02 criteria provided, single submitter clinical testing The SETX c.2479A>G; p.Lys827Glu variant (rs150532677), is reported in at least one family affected with autosomal dominant tremor and ataxia (Vasco 2017). This variant is reported as uncertain significance in ClinVar (Variation ID: 468494), and is found in the general population with an overall allele frequency of 0.078% (212/272,300 alleles) in the Genome Aggregation Database. The lysine at codon 827 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Lys827Glu variant is uncertain at this time. References: Vasco G, et al. Novel mutation in SETX causes a dominant pleiotropic Tremor-Ataxia phenotype across three generations (abstract) In: International Ataxia Research Conference; 2017 Sept 27-30; Pisa, Italy. Genova, Italy: Eurotraining; 2017. Abstract nr 66.
Illumina Clinical Services Laboratory,Illumina RCV001167461 SCV001329964 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001167462 SCV001329965 uncertain significance Amyotrophic lateral sclerosis type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198771 SCV001369766 uncertain significance Dysarthria; Dysphagia; Retinal atrophy; Spastic tetraparesis; Cerebral cortical atrophy; Bulbar signs 2018-10-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP5,PP3. This variant was detected in heterozygous state.

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