ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) (rs372535542)

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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 RCV000778875 SCV000915273 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-10-12 criteria provided, single submitter clinical testing The SETX c.7330C>T (p.Arg2444Cys) missense variant has been reported in a compound heterozygous state with two variants on the second allele in a 35 year old male with ataxia with oculomotor apraxia type 2 (Bernard et al. 2008). This individual presented at age 12, required the use of a wheelchair by age 34, and had limb ataxia, cerebellar dysarthria, oculomotor apraxia and neuropathy with muscular atrophy and areflexia. The p.Arg2444Cys variant was also detected in a heterozygous state in the patient's presumably healthy father. The variant was absent from 100 control subjects but reported at a frequency of 0.000012 in the Total population from the Genome Aggregation Database. The evidence for this variant is limited. Therefore, the p.Arg2444Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for ataxia with oculomotor apraxia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Clinical Services Laboratory,Illumina RCV001169582 SCV001332321 uncertain significance Amyotrophic lateral sclerosis type 4 2017-10-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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