ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) (rs139793542)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726914 SCV000321689 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GABRA1 gene. The P409S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P409S variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P409S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, Serine is observed at this position in evolution. 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.
Invitae RCV000468868 SCV000547393 benign Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 2020-10-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726914 SCV000704135 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing

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