ClinVar Miner

Submissions for variant NM_018943.3(TUBA8):c.727C>T (p.Arg243Cys)

gnomAD frequency: 0.00003  dbSNP: rs762265885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336461 SCV001529850 uncertain significance Polymicrogyria with optic nerve hypoplasia 2018-02-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871887 SCV002200527 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 243 of the TUBA8 protein (p.Arg243Cys). This variant is present in population databases (rs762265885, gnomAD 0.03%). 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: 1033915). 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 TUBA8 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.
OMIM RCV002246314 SCV002520416 pathogenic Macrothrombocytopenia, isolated, 2, autosomal dominant 2022-04-26 no assertion criteria provided literature only

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