ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.896C>A (p.Pro299His)

dbSNP: rs1641834551
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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 RCV001563637 SCV001786616 uncertain significance Spinocerebellar ataxia 47 2020-12-03 criteria provided, single submitter clinical testing The PUM1 c.896C>A (p.Pro299His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Pro299His variant is not reported in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Pro299His variant is classified as a variant of uncertain significance for spinocerebellar ataxia 47.

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