Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531495 | SCV000656270 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001783059 | SCV002025597 | uncertain significance | Familial temporal lobe epilepsy 7 | 2020-04-26 | criteria provided, single submitter | clinical testing | The inherited p.Gln771His variant identified in the RELN gene has not been reported in affected individuals in the literature. The variant has been reported in ClinVar (Variation ID: 475951). The variant has 0.0000837 allele frequency inthe gnomAD database across all populations (21 out of 250,910 heterozygous alleles) and 0.0006077 allele frequency in Latino subpopulation represented in gnomAD (21 out of 34,556 heterozygous alleles). The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. However, functional studies are needed to evaluate the potential pathogenicity of this variant. Based on the available evidence, the p.Gln771His variant in the RELN gene is assessed as a variant of uncertain significance. |