ClinVar Miner

Submissions for variant NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)

dbSNP: rs1554122911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500859 SCV000597725 uncertain significance not specified 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524322 SCV003334770 pathogenic not provided 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 388 of the TUBB2A protein (p.Met388Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with TUBB2A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 437124). 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. For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001788236 SCV002029254 likely pathogenic Complex cortical dysplasia with other brain malformations 5 no assertion criteria provided clinical testing

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