ClinVar Miner

Submissions for variant NM_001069.3(TUBB2A):c.533C>T (p.Thr178Met)

dbSNP: rs886039447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255641 SCV000321987 pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26633542, 27535533, 34869359)
Labcorp Genetics (formerly Invitae), Labcorp RCV000255641 SCV003439317 likely pathogenic not provided 2023-07-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects TUBB2A function (PMID: 34869359). 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) performed at Invitae indicates that this missense variant is expected to disrupt TUBB2A protein function. ClinVar contains an entry for this variant (Variation ID: 265284). This missense change has been observed in individual(s) with clinical features of TUBB2A-related conditions (PMID: 26633542, 34869359). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 178 of the TUBB2A protein (p.Thr178Met).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004584377 SCV005073664 likely pathogenic Complex cortical dysplasia with other brain malformations 5 2024-07-04 criteria provided, single submitter clinical testing

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