ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.850C>T (p.Leu284Phe)

dbSNP: rs2146377410
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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 RCV001795602 SCV002034830 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant 2021-11-01 criteria provided, single submitter clinical testing The TUBB1 c.850C>T (p.Leu284Phe) 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. This variant is not found in the Genome Aggregation Database (version 2.1.1 and version 3.1.2) in a region of good sequence coverage, so the variant is presumed to be rare. Multiple computational variant effect prediction algorithms suggest that this variant will have a deleterious impact. Based on the limited evidence, the p.Leu284Phe variant is classified as a variant of uncertain significance for TUBB1-related macrothrombocytopenia.

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