ClinVar Miner

Submissions for variant NM_018943.3(TUBA8):c.868G>A (p.Glu290Lys)

gnomAD frequency: 0.00001  dbSNP: rs754515296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003774726 SCV004616385 uncertain significance not provided 2023-04-01 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 TUBA8 protein function. ClinVar contains an entry for this variant (Variation ID: 1686850). This variant has not been reported in the literature in individuals affected with TUBA8-related conditions. This variant is present in population databases (rs754515296, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 290 of the TUBA8 protein (p.Glu290Lys).
OMIM RCV002248335 SCV002520417 pathogenic Macrothrombocytopenia, isolated, 2, autosomal dominant 2022-04-26 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004757534 SCV005357507 uncertain significance TUBA8-related disorder 2024-07-04 no assertion criteria provided clinical testing The TUBA8 c.868G>A variant is predicted to result in the amino acid substitution p.Glu290Lys. This variant has been reported in an individual with mild thrombocytopaenia; however, this gene-disease association is not well established (Kimmerlin et al. 2022. PubMed ID: 34704371). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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