ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) (rs200218956)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585014 SCV000241102 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing p.Pro29Leu (CCG>CTG): c.86 C>T in exon 4 of the GABRA1 gene (NM_000806.5). The P29L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P29L variant is observed in 1/6574 (0.02%) alleles from individuals of Finnish background and in 8/66468 (0.01%) alleles from individuals of non-Finnish European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P29L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.The variant is found in EPILEPSY panel(s).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585014 SCV000693195 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001068548 SCV001233666 benign Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 2020-10-06 criteria provided, single submitter clinical testing

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