ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)

gnomAD frequency: 0.00001  dbSNP: rs770694223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207270 SCV001378614 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-09-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SETX-related conditions. 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 is present in population databases (rs770694223, ExAC 0.002%). This sequence change replaces serine with glycine at codon 930 of the SETX protein (p.Ser930Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.
Institute of Human Genetics, University of Leipzig Medical Center RCV001706721 SCV001934335 uncertain significance Amyotrophic lateral sclerosis type 4 2020-11-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233992 SCV003931494 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001706721 SCV003931495 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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