ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289127 SCV002578896 uncertain significance Developmental and epileptic encephalopathy, 78 2022-07-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002289127 SCV003816260 uncertain significance Developmental and epileptic encephalopathy, 78 2021-07-01 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV002289127 SCV004009628 likely pathogenic Developmental and epileptic encephalopathy, 78 2022-10-11 criteria provided, single submitter research
Pediatric Neurology, Shengjing Hospital of China Medical University RCV002289127 SCV005199847 likely pathogenic Developmental and epileptic encephalopathy, 78 no assertion criteria provided clinical testing This variant has been reported three times in ClinVar (Variant ID: 1709312), with one report confirming that the missense variant is located in a well-studied exon with no benign variants (PM1); the minor allele frequency (MAF) of the variant is less than 0.0005, which is considered a low-frequency variant (PM2); finally, conservation and protein structure prediction software predict an impact of the variant on the gene product (PP3).

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