ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) (rs200614765)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262880 SCV000477879 uncertain significance Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320659 SCV000477880 uncertain significance Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516760 SCV000615156 uncertain significance not specified 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000687686 SCV000815271 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 464 of the SETX protein (p.Ser464Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs200614765, ExAC 0.05%). This variant has been observed in an individual affected with amyotrophic lateral sclerosis (PMID: 25382069). ClinVar contains an entry for this variant (Variation ID: 365372). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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