ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) (rs780898043)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000344541 SCV000477869 uncertain significance Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390382 SCV000477870 uncertain significance Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000803584 SCV000943463 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 668 of the SETX protein (p.Asn668Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs780898043, ExAC 0.009%). This variant has not been reported in the literature in individuals with SETX-related disease. ClinVar contains an entry for this variant (Variation ID: 365368). 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. 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.

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