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 2023-08-19 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.
Invitae RCV000493928 SCV002598364 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 has not been reported in the literature in individuals affected with TUBA1A-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 429321).

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