ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2992C>G (p.Leu998Val)

dbSNP: rs201003473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527489 SCV000656278 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163986 SCV001326077 uncertain significance Norman-Roberts syndrome 2018-01-12 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.
Clinical Genomics Program, Stanford Medicine RCV003380623 SCV004098879 uncertain significance Familial temporal lobe epilepsy 7 2020-10-28 no assertion criteria provided clinical testing The p.Leu998Val variant in the RELN gene has not been previously reported in association with disease. This variant has been identified in 1/18344 East Asian individuals by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The Leu amino acid at position 998 is evolutionarily conserved. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Leu998Val variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2]

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