ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.530del (p.Arg177fs)

dbSNP: rs878854144
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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 RCV000227482 SCV000285628 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2019-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 177 (p.Arg177Glnfs*6). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in GABRG2 are known to be pathogenic (PMID: 18566737). This variant has been observed to segregate with GABRG2-related conditions in a single family in the Invitae database. For these reasons, this variant has been classified as Pathogenic.

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