ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)

gnomAD frequency: 0.68476  dbSNP: rs1183768
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081695 SCV000113626 benign not specified 2013-07-24 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000081695 SCV000312305 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000988271 SCV000477842 benign Amyotrophic lateral sclerosis type 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000351274 SCV000477843 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000081695 SCV000514611 benign not specified 2015-04-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000081695 SCV000540326 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, 2 labs classify as benign/LB in clinvar
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713210 SCV000605090 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713210 SCV000843796 benign not provided 2017-04-12 criteria provided, single submitter clinical testing
Mendelics RCV000988271 SCV001137926 benign Amyotrophic lateral sclerosis type 4 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001522461 SCV001732014 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988271 SCV002055141 benign Amyotrophic lateral sclerosis type 4 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351274 SCV002055142 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081695 SCV000152712 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081695 SCV001740105 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000081695 SCV001807408 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000081695 SCV001919053 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081695 SCV001929131 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081695 SCV001960017 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081695 SCV001963887 benign not specified no assertion criteria provided clinical testing

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