ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.273A>G (p.Gln91=)

dbSNP: rs765483435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192635 SCV000249300 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001568164 SCV001791988 likely benign not provided 2021-04-17 criteria provided, single submitter clinical testing
Invitae RCV001568164 SCV003303166 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing This sequence change affects codon 91 of the TUBA1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TUBA1A protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TUBA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 212492). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences RCV003977533 SCV004791854 likely benign TUBA1A-related condition 2019-03-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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