ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.68T>C (p.Met23Thr)

gnomAD frequency: 0.00005  dbSNP: rs374942824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090865 SCV001246625 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090865 SCV002964657 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 871094). This missense change has been observed in individual(s) with an unspecified bleeding disorder (PMID: 32935436). This variant is present in population databases (rs374942824, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 23 of the TUBB1 protein (p.Met23Thr).
Birmingham Platelet Group; University of Birmingham RCV001270590 SCV001450889 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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