ClinVar Miner

Submissions for variant NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) (rs772318046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778159 SCV000914292 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 2019-04-05 criteria provided, single submitter clinical testing The TDP1 c.1611C>G (p.Tyr537Ter) variant is a stop-gained variant 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 0.00008 in the European (Non-Finnish) population from the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for autosomal recessive spinocerebellar ataxia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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