ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1690T>G (p.Leu564Val)

gnomAD frequency: 0.00006  dbSNP: rs761877146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518116 SCV000615160 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000695046 SCV000823522 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413399 SCV002715379 uncertain significance Inborn genetic diseases 2020-12-22 criteria provided, single submitter clinical testing The p.L564V variant (also known as c.1690T>G), located in coding exon 8 of the SETX gene, results from a T to G substitution at nucleotide position 1690. The leucine at codon 564 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. This alteration has been reported in a heterozygous state in a single patient with sporadic amyotrophic lateral sclerosis (Zhang H et al. Amyotroph Lateral Scler Frontotemporal Degene, 2018 08;19:419-425). In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of juvenile amyotrophic lateral sclerosis 4; however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 is uncertain.
GeneDx RCV004772950 SCV005385761 uncertain significance not provided 2024-04-24 criteria provided, single submitter clinical testing Reported in a patient with sporadic amyotrophic lateral sclerosis (PMID: 30220148); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30220148)

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