ClinVar Miner

Submissions for variant NM_018943.3(TUBA8):c.202A>C (p.Ile68Leu)

gnomAD frequency: 0.00001  dbSNP: rs776983625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003774725 SCV004663465 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 68 of the TUBA8 protein (p.Ile68Leu). This variant is present in population databases (rs776983625, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TUBA8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1686848). 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. Experimental studies have shown that this missense change affects TUBA8 function (PMID: 34704371). 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.
OMIM RCV002248334 SCV002520415 pathogenic Macrothrombocytopenia, isolated, 2, autosomal dominant 2022-04-26 no assertion criteria provided literature only

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