ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)

dbSNP: rs1554821571
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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 RCV000644824 SCV000766539 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-08-08 criteria provided, single submitter clinical testing 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). This sequence change replaces serine with isoleucine at codon 708 of the SETX protein (p.Ser708Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine.
PreventionGenetics, part of Exact Sciences RCV004533374 SCV004727260 uncertain significance SETX-related disorder 2023-11-29 no assertion criteria provided clinical testing The SETX c.2123G>T variant is predicted to result in the amino acid substitution p.Ser708Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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