ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.554C>T (p.Ala185Val)

gnomAD frequency: 0.00003  dbSNP: rs146846923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851818 SCV000899802 uncertain significance Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV003322614 SCV004027737 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant 2023-07-05 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003718287 SCV004508478 uncertain significance not provided 2023-03-14 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TUBB1 protein function. ClinVar contains an entry for this variant (Variation ID: 627090). This missense change has been observed in individual(s) with clinical features of TUBB1-related conditions (PMID: 31064749). This variant is present in population databases (rs146846923, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 185 of the TUBB1 protein (p.Ala185Val).

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