ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002409962 SCV002669607 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The p.V2604L variant (also known as c.7810G>T), located in coding exon 24 of the SETX gene, results from a G to T substitution at nucleotide position 7810. The valine at codon 2604 is replaced by leucine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776443 SCV004569937 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-01 criteria provided, single submitter clinical testing

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