ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)

gnomAD frequency: 0.00009  dbSNP: rs375985673
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343564 SCV000465924 uncertain significance Norman-Roberts syndrome 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.
Invitae RCV000695430 SCV000823928 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765903 SCV000897323 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
New York Genome Center RCV001782859 SCV002025700 uncertain significance Familial temporal lobe epilepsy 7 2020-04-18 criteria provided, single submitter clinical testing
GeneDx RCV002058637 SCV002496251 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000343564 SCV003813836 uncertain significance Norman-Roberts syndrome 2021-04-19 criteria provided, single submitter clinical testing

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