ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)

gnomAD frequency: 0.00507  dbSNP: rs587784500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993525 SCV001146568 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000993525 SCV001831757 benign not provided 2019-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492538 SCV002800449 benign Complex cortical dysplasia with other brain malformations 7 2021-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993525 SCV003246775 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing 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 TUBB2B protein function. ClinVar contains an entry for this variant (Variation ID: 160184). This variant has not been reported in the literature in individuals affected with TUBB2B-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 235 of the TUBB2B protein (p.Gly235Arg). 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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