ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) (rs535912271)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853313 SCV000996160 pathogenic Spinocerebellar ataxia, autosomal recessive 21 2018-06-27 criteria provided, single submitter clinical testing This nonsense variant found in exon 4 of 18 is predicted to result in loss of normal protein function. Loss of function variants are an established mechanism for disease in SCYL1. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.526A>T (p.Lys176Ter) variant is predicted by multiple in silico tools to have a deleterious effect on protein function. This variant was detected in trans with a pathogenic variant. Based on the available evidence, the c.526A>T (p.Lys176Ter) variant is classified as pathogenic.

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