ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)

gnomAD frequency: 0.00003  dbSNP: rs769801846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692376 SCV000820196 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763952 SCV000894899 uncertain significance Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001545866 SCV001765278 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing Reported previously as part of a complex allele with multiple variants in the 5' regulatory region of the GARBR3 gene in a child with autism; the patient's father who had autistic features and in his unaffected sibling also harbored the complex allele and this T186M variant (Chen et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24999380)

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