Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023334 | SCV001185196 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-14 | criteria provided, single submitter | clinical testing | The p.K1655R variant (also known as c.4964A>G), located in coding exon 34 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 4964. The lysine at codon 1655 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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 | RCV001245533 | SCV001418827 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2022-01-31 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 825328). 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 lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1655 of the SMARCA4 protein (p.Lys1655Arg). |
Genome- |
RCV001809949 | SCV002057002 | uncertain significance | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing |