Submissions for variant NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile)

dbSNP: rs796052493

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187501	SCV000241095	likely pathogenic	not provided	2016-11-04	criteria provided, single submitter	clinical testing	p.Val287Ile (GTA>ATA): c.859 G>A in exon 10 of the GABRA1 gene (NM_000806.5). The Val287Ile missense change in the GABRA1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is conserved across species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Val287Ile is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Invitae	RCV001216490	SCV001388290	uncertain significance	Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4	2021-08-20	criteria provided, single submitter	clinical testing