ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.187+5G>A (rs368360804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187509 SCV000241103 uncertain significance not provided 2013-09-20 criteria provided, single submitter clinical testing c.187+5 G>A: IVS4+5 G>A in intron 4 of the GABRA1 gene (NM_000806.5). The c.187+5 G>A nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project did not identify c.187+5 G>A in approximately 6000 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Multiple in silico models predict that the c.187+5 G>A substitution may damage the natural splice donor site in intron 4, possibly leading to abnormal splicing. However, splice site mutations have not been published in the GABRA1 gene in association with epilepsy, and in the absence of RNA/functional studies the actual effect of the c.187+5 G>A sequence change is unknown. The variant is found in CHILD-EPI panel(s).

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