Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022363 | SCV001184092 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-10 | criteria provided, single submitter | clinical testing | The p.T1455A variant (also known as c.4363A>G), located in coding exon 30 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 4363. The threonine at codon 1455 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001221181 | SCV001393207 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2021-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 1455 of the SMARCA4 protein (p.Thr1455Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Genome- |
RCV001809939 | SCV002056919 | uncertain significance | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing |