ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg)

dbSNP: rs1131691318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493928 SCV000581860 pathogenic not provided 2024-07-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767510 SCV000898125 likely pathogenic Tubulinopathy 2018-07-01 criteria provided, single submitter literature only A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.427G>A, p.(Gly143Arg) variant has been reported as a variant of germline/unknown origin.
Labcorp Genetics (formerly Invitae), Labcorp RCV000493928 SCV002598364 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TUBA1A-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 143 of the TUBA1A protein (p.Gly143Arg). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 429321). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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