ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003222766 SCV003917211 likely pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing TUBA1A: PM2, PM6, PP2, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003222766 SCV004320015 uncertain significance not provided 2023-09-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 176 of the TUBA1A protein (p.Gln176His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TUBA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2498557). 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. 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.

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