ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn)

gnomAD frequency: 0.00016  dbSNP: rs373607825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214531 SCV001386215 benign Epileptic encephalopathy 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844273 SCV002103779 uncertain significance not specified 2022-02-01 criteria provided, single submitter clinical testing Variant summary: GABBR2 c.1364C>A (p.Thr455Asn) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 251328 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in GABBR2 causing Early Infantile Epileptic Encephalopathy 59 (4e-05 vs ND), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1364C>A in individuals affected with Early Infantile Epileptic Encephalopathy 59 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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