ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)

gnomAD frequency: 0.00001  dbSNP: rs146407699
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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 Inc RCV000518088 SCV000615186 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000644816 SCV000766531 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1349 of the SETX protein (p.Gln1349Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SETX-related disease. This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV003233683 SCV003931401 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233684 SCV003931402 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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