ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) (rs922847767)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Choi Lab,Seoul National University RCV000515463 SCV000611091 pathogenic Rett syndrome 2017-09-22 criteria provided, single submitter case-control We identified a recurring de novo variant in GABAB receptor R2 (GABBR2) that reduces the receptor function, whereas different GABBR2 variants in EE patients possess a more profound effect in reducing receptor activity and are more responsive to agonist rescue in an animal model. GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. GABBR2-mediated γ-aminobutyric acid signaling is a crucial factor in determining the severity and nature of neurodevelopmental phenotypes.
Ambry Genetics RCV000622956 SCV000741708 pathogenic Inborn genetic diseases 2016-08-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV001061069 SCV001225797 pathogenic Epileptic encephalopathy 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 567 of the GABBR2 protein (p.Ala567Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with GABBR2-related conditions (PMID: 26740508, 28856709, 27541642). This variant has been reported to affect GABBR2 protein function (PMID: 28856709). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200540 SCV001371531 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
OMIM RCV000590831 SCV000700066 pathogenic NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 2018-03-15 no assertion criteria provided literature only

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