Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000572089 | SCV000672304 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-08-17 | criteria provided, single submitter | clinical testing | The c.4797_4799delGGA variant (also known as p.E1599del) is located in coding exon 33 of the SMARCA4 gene. This variant results from an in-frame GGA deletion at nucleotide positions 4797 to 4799. This results in the in-frame deletion of a glutamic acid at codon 1599. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003617836 | SCV004403758 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2022-11-06 | 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. 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: 484986). 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.4797_4799del, results in the deletion of 1 amino acid(s) of the SMARCA4 protein (p.Glu1599del), but otherwise preserves the integrity of the reading frame. |