ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1889C>T (p.Thr630Met)

gnomAD frequency: 0.00001  dbSNP: rs749132753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232366 SCV001404922 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411856 SCV002722474 uncertain significance Inborn genetic diseases 2019-11-19 criteria provided, single submitter clinical testing The p.T630M variant (also known as c.1889C>T), located in coding exon 8 of the SETX gene, results from a C to T substitution at nucleotide position 1889. The threonine at codon 630 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly conserved in available 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 juvenile amyotrophic lateral sclerosis 4 (AD); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (AR) is uncertain.

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