ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2750T>C (p.Met917Thr) (rs376022544)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713201 SCV000843787 uncertain significance not provided 2017-11-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000713201 SCV001155787 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001042487 SCV001206169 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 917 of the SETX protein (p.Met917Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs376022544, ExAC 0.02%). This variant has been observed in individual(s) with amyotrophic lateral sclerosis; however, this variant has also been observed in a control individual (PMID: 25382069). ClinVar contains an entry for this variant (Variation ID: 586541). 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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