ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile)

dbSNP: rs1555162301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623293 SCV000741238 likely pathogenic Inborn genetic diseases 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV002298709 SCV002590841 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 361 of the TUBA1A protein (p.Thr361Ile). 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) performed at Invitae indicates that this missense variant is not expected to disrupt TUBA1A protein function. ClinVar contains an entry for this variant (Variation ID: 520901). This variant has not been reported in the literature in individuals affected with TUBA1A-related conditions. This variant is not present in population databases (gnomAD no frequency).

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