ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)

gnomAD frequency: 0.00010  dbSNP: rs140892948
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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 RCV000794210 SCV000933604 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458415 SCV002617497 uncertain significance Inborn genetic diseases 2022-03-02 criteria provided, single submitter clinical testing The p.T1217M variant (also known as c.3650C>T), located in coding exon 8 of the SETX gene, results from a C to T substitution at nucleotide position 3650. The threonine at codon 1217 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 (ALS4); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain.

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