ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.644T>C (p.Leu215Ser)

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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 RCV004698451 SCV005199848 likely pathogenic Developmental and epileptic encephalopathy, 78 criteria provided, single submitter clinical testing This variant has not been reported in ClinVar.Iit is a de novo mutation and was not found in the patient's parents. The minor allele frequency (MAF) of this variant is less than 0.0005, classifying it as a low-frequency variant (PM2), and conservation as well as protein structure prediction software predict that the variant has an impact on the gene (PP3).

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