ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.460C>G (p.Leu154Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Neurology, Shengjing Hospital of China Medical University RCV004698453 SCV005199852 likely pathogenic Developmental and epileptic encephalopathy, 78 criteria provided, single submitter clinical testing This variant has not been reported in the ACMG classification, but it is located in an exon region known to lack benign variants（PM1）. The minor allele frequency in the normal population is less than 0.0005（PM2）, and bioinformatics tools or predictive algorithms predict that the variant is damaging to protein（PP3）

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