ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.429dup (p.Lys144fs)

dbSNP: rs2113326012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383477 SCV001582628 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys144Glufs*16) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071103). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions.

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