ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4979A>G (p.His1660Arg)

gnomAD frequency: 0.00004  dbSNP: rs371894414
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644814 SCV000766529 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849022 SCV002105163 uncertain significance Hereditary spastic paraplegia 2017-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334141 SCV002642184 uncertain significance Inborn genetic diseases 2021-01-20 criteria provided, single submitter clinical testing The p.H1660R variant (also known as c.4979A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 4979. The histidine at codon 1660 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. This alteration has been reported in a heterozygous state in a single patient with familial amyotrophic lateral sclerosis (Müller K et al. J Neurol Neurosurg Psychiatry, 2018 08;89:817-827). 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.
Athena Diagnostics RCV002473088 SCV002771070 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233771 SCV003931347 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233772 SCV003931348 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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