Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001907107 | SCV002126529 | uncertain significance | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-06-10 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RELN protein function. ClinVar contains an entry for this variant (Variation ID: 1360637). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 799 of the RELN protein (p.Tyr799Cys). |
| Ambry Genetics | RCV004039744 | SCV004938996 | uncertain significance | Inborn genetic diseases | 2024-01-31 | criteria provided, single submitter | clinical testing | The c.2396A>G (p.Y799C) alteration is located in exon 19 (coding exon 19) of the RELN gene. This alteration results from a A to G substitution at nucleotide position 2396, causing the tyrosine (Y) at amino acid position 799 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |