ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) (rs770590408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517452 SCV000615214 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV000544223 SCV000645293 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-08-02 criteria provided, single submitter clinical testing This variant, c.7711_7713delCCT, results in the deletion of 1 amino acid(s) of the SETX protein (p.Pro2571del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770590408, ExAC 0.06%). This variant has not been reported in the literature in individuals with SETX-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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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