ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.74+3_74+4delinsAT

dbSNP: rs1757418856
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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 RCV001244936 SCV001418192 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2019-11-07 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GABRA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the GABRA1 gene. It does not directly change the encoded amino acid sequence of the GABRA1 protein, but it affects a nucleotide within the consensus splice site of the intron.

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