ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1454G>A (p.Arg485His) (rs587780341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000259975 SCV000456090 uncertain significance Epilepsy, childhood absence 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV000717265 SCV000848114 uncertain significance Seizures 2017-06-16 criteria provided, single submitter clinical testing The p.R437H variant (also known as c.1310G>A), located in coding exon 9 of the GABRG2 gene, results from a G to A substitution at nucleotide position 1310. The arginine at codon 437 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001507659 SCV001713344 uncertain significance not provided 2019-08-26 criteria provided, single submitter clinical testing

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