Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019599 | SCV001180980 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-10 | criteria provided, single submitter | clinical testing | The p.R1093Q variant (also known as c.3278G>A), located in coding exon 23 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 3278. The arginine at codon 1093 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in multiple individuals with no reported features of Coffin-Siris syndrome (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, the association of this alteration with rhabdoid tumor predisposition syndrome is unknown; however, the association of this alteration with Coffin-Siris syndrome is unlikely. |
Labcorp Genetics |
RCV001043136 | SCV001206853 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2023-09-06 | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMARCA4 protein function. ClinVar contains an entry for this variant (Variation ID: 823390). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1093 of the SMARCA4 protein (p.Arg1093Gln). |
Genome- |
RCV001809925 | SCV002056862 | uncertain significance | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001019599 | SCV002532886 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-09 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV001043136 | SCV004204917 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2023-09-05 | criteria provided, single submitter | clinical testing |