ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2399G>T (p.Arg800Met)

gnomAD frequency: 0.00003  dbSNP: rs761725498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820064 SCV000960758 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311798 SCV001502112 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290467 SCV002579647 uncertain significance Tay-Sachs disease 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442748 SCV002732004 uncertain significance Inborn genetic diseases 2021-12-01 criteria provided, single submitter clinical testing The p.R800M variant (also known as c.2399G>T), located in coding exon 8 of the SETX gene, results from a G to T substitution at nucleotide position 2399. The arginine at codon 800 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733057 SCV005345227 uncertain significance SETX-related disorder 2024-05-03 no assertion criteria provided clinical testing The SETX c.2399G>T variant is predicted to result in the amino acid substitution p.Arg800Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0036% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135204586-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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