ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)

gnomAD frequency: 0.00002  dbSNP: rs267607044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755758 SCV001985419 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in apparent homozygous state in two siblings with ataxia with peripheral neuropathy and increased serum AFP in published literature; however the affected siblings were also apparently homozygous for another SETX variant and unaffected siblings were heterozygous for both SETX variants (Asaka et al., 2006); This variant is associated with the following publications: (PMID: 23566282, 23129421, 16717225)
Inherited Neuropathy Consortium RCV000790202 SCV000929594 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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