ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.969C>A (p.Ala323=)

dbSNP: rs146381127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528733 SCV000632053 uncertain significance Idiopathic generalized epilepsy 2023-07-14 criteria provided, single submitter clinical testing This sequence change affects codon 323 of the GABRD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GABRD protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. ClinVar contains an entry for this variant (Variation ID: 460018). 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.

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