ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7119_7120TG[1] (p.Val2374fs) (rs765371601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000387123 SCV000477795 uncertain significance SETX-Related Disorders 2017-04-28 criteria provided, single submitter clinical testing The SETX c.7121_7122delTG (p.Val2374GlyfsTer20) variant results in a frameshift and is predicted to cause premature termination of the protein. The p.Val2374GlyfsTer20 variant has been reported in at least one study in which it was found in a compound heterozygous state in an individual with ataxia with oculomotor ataxia (Newrick et al. 2015). Control data are unavailable for this variant, which is reported at a frequency of 0.00003 in the European (non-Finnish) population of the Exome Aggregation Consortium. This frequency is based on two alleles in a region of good sequencing coverage, and the variant is presumed to be rare. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for SETX-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Athena Diagnostics Inc RCV000517330 SCV000615208 likely pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The best available variant frequency is uninformative because it is below the disease allele frequency.

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