ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)

gnomAD frequency: 0.00001  dbSNP: rs62576475
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847306 SCV002105152 uncertain significance Hereditary spastic paraplegia 2020-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458544 SCV002614375 uncertain significance Inborn genetic diseases 2021-04-20 criteria provided, single submitter clinical testing The p.G1137D variant (also known as c.3410G>A), located in coding exon 8 of the SETX gene, results from a G to A substitution at nucleotide position 3410. The glycine at codon 1137 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and aspartic acid is the reference amino acid in other vertebrate species. 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 autosomal dominant juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain.
Genome-Nilou Lab RCV003234084 SCV003931429 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234085 SCV003931430 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771763 SCV004592711 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579904 SCV001808951 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579904 SCV001971430 likely benign not provided no assertion criteria provided clinical testing

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