ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del) (rs727503941)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723908 SCV000202771 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000723908 SCV000241137 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing The c.1113_1115delAAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It results in the in-frame deletion of a single Lysine residue, denoted p.Lys374del. However, to our knowledge, in-frame deletions have not been previously reported in the GABRG2 gene in association with epilepsy.
Ambry Genetics RCV000624390 SCV000742820 uncertain significance Inborn genetic diseases 2017-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV001223368 SCV001395513 uncertain significance Epilepsy, childhood absence 2; Familial febrile seizures 8 2020-06-22 criteria provided, single submitter clinical testing This variant, c.1113_1115del, results in the deletion of 1 amino acid(s) of the GABRG2 protein (p.Lys374del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749611954, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individual(s) with epilepsy (PMID: 30660939). ClinVar contains an entry for this variant (Variation ID: 167117). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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