ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.1267C>T (p.Gln423Ter)

gnomAD frequency: 0.00001  dbSNP: rs767041023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002223124 SCV002500918 pathogenic Macrothrombocytopenia, isolated, 1, autosomal dominant criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003560876 SCV004297351 uncertain significance not provided 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln423*) in the TUBB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the TUBB1 protein. This variant is present in population databases (rs767041023, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with TUBB1-related conditions (PMID: 4516618, 27905099, 28983057, 34516618). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1677273). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV002223124 SCV004042666 pathogenic Macrothrombocytopenia, isolated, 1, autosomal dominant 2023-10-12 no assertion criteria provided literature only

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