Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192635 | SCV000249300 | uncertain significance | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
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. |
Prevention |
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). |