Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000475307 | SCV000548459 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2021-12-07 | 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: 408673). 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 358 of the SMARCA4 protein (p.Pro358Leu). |
Laboratory of Molecular Genetics |
RCV002279231 | SCV002564485 | uncertain significance | Neurodevelopmental disorder | 2022-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168803 | SCV003855187 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-06 | criteria provided, single submitter | clinical testing | The p.P358L variant (also known as c.1073C>T), located in coding exon 5 of the SMARCA4 gene, results from a C to T substitution at nucleotide position 1073. The proline at codon 358 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |