Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001361210 | SCV001557176 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2023-06-23 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1052937). 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 variant, c.4375_4380dup, results in the insertion of 2 amino acid(s) of the SMARCA4 protein (p.Ser1459_Thr1460dup), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV004951608 | SCV005506358 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-26 | criteria provided, single submitter | clinical testing | The c.4375_4380dupAGCACC variant (also known as p.S1459_T1460dup), located in coding exon 30 of the SMARCA4 gene, results from an in-frame duplication of AGCACC at nucleotide positions 4375 to 4380. This results in the duplication of 2 extra residues (ST) at codons 1459 and 1460. This amino acid region is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear. |