Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001093345 | SCV001250277 | likely pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001093345 | SCV003761716 | pathogenic | not provided | 2023-01-25 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27264197, 25168959, 27149204, 24090879, 23377182, 23929686) |
Invitae | RCV003526033 | SCV004297760 | uncertain significance | Familial meningioma | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 105 of the SMARCE1 protein (p.Arg105Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Coffin-Siris syndrome (PMID: 23929686, 27264197). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 872720). 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 SMARCE1 protein function with a negative predictive value of 80%. 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. |