ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)

gnomAD frequency: 0.00009  dbSNP: rs754357821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731319 SCV000859120 uncertain significance not provided 2018-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334410 SCV002635241 uncertain significance Inborn genetic diseases 2022-03-01 criteria provided, single submitter clinical testing The p.L1544S variant (also known as c.4631T>C), located in coding exon 8 of the SETX gene, results from a T to C substitution at nucleotide position 4631. The leucine at codon 1544 is replaced by serine, an amino acid with dissimilar 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.
Genome-Nilou Lab RCV003233845 SCV003931368 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233846 SCV003931369 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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