ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7530C>G (p.His2510Gln)

dbSNP: rs1303389955
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209320 SCV001380749 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-09-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 2510 of the SETX protein (p.His2510Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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