ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.997G>A (p.Val333Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003006765 SCV003721007 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.997G>A (p.V333M) alteration is located in exon 4 (coding exon 4) of the TUBB1 gene. This alteration results from a G to A substitution at nucleotide position 997, causing the valine (V) at amino acid position 333 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140214 SCV003819866 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant 2020-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003699014 SCV004473520 uncertain significance not provided 2023-08-19 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) performed at Invitae indicates that this missense variant is not expected to disrupt TUBB1 protein function. ClinVar contains an entry for this variant (Variation ID: 2375937). This variant has not been reported in the literature in individuals affected with TUBB1-related conditions. This variant is present in population databases (rs775146221, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 333 of the TUBB1 protein (p.Val333Met).

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