ClinVar Miner

Submissions for variant NM_024411.5(PDYN):c.496del (p.Glu166fs)

dbSNP: rs768036104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779343 SCV000915936 uncertain significance Spinocerebellar ataxia type 23 2018-10-15 criteria provided, single submitter clinical testing The PDYN c.496delG (p.Glu166ArgfsTer72) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000203 in the Ashkenazi Jewish population of the Genome Aggregation Database but this is based on one allele only in a region of good coverage so is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. 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 autosomal dominant spinocerebellar ataxia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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