ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=)

gnomAD frequency: 0.00001  dbSNP: rs541335259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281844 SCV000456013 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 13 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.
GeneDx RCV000645393 SCV001861715 likely benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Invitae RCV002058523 SCV002449442 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-08-26 criteria provided, single submitter clinical testing

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