ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)

gnomAD frequency: 0.00020  dbSNP: rs534886444
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000143817 SCV000780944 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000988269 SCV001137924 benign Amyotrophic lateral sclerosis type 4 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001049421 SCV001213470 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000143817 SCV001475483 uncertain significance not provided 2020-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326849 SCV002631734 uncertain significance Inborn genetic diseases 2022-05-12 criteria provided, single submitter clinical testing The p.K1425E variant (also known as c.4273A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 4273. The lysine at codon 1425 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143817 SCV000188710 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Inherited Neuropathy Consortium RCV000790205 SCV000929597 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000143817 SCV001809356 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000143817 SCV001964139 likely benign not provided no assertion criteria provided clinical testing

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