ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2543T>G (p.Val848Gly)

gnomAD frequency: 0.00004  dbSNP: rs567711722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758833 SCV001997118 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847330 SCV002105141 uncertain significance Hereditary spastic paraplegia 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002540424 SCV003285262 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536293 SCV004113943 uncertain significance SETX-related disorder 2022-12-13 criteria provided, single submitter clinical testing The SETX c.2543T>G variant is predicted to result in the amino acid substitution p.Val848Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135204442-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Neuberg Centre For Genomic Medicine, NCGM RCV003446904 SCV004171875 uncertain significance Amyotrophic lateral sclerosis type 4 criteria provided, single submitter clinical testing

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