ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.696C>T (p.Gly232=)

dbSNP: rs144046110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029062 SCV002297483 uncertain significance Idiopathic generalized epilepsy 2023-09-22 criteria provided, single submitter clinical testing This sequence change affects codon 232 of the GABRD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GABRD 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 GABRD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1504795). 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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