ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)

gnomAD frequency: 0.00001  dbSNP: rs766384576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622868 SCV000742659 uncertain significance Inborn genetic diseases 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001301597 SCV001490772 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-04-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001301597 SCV002495922 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in 0.02% (2/67960) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7 103561864 C T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:521876). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV004767448 SCV005376408 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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