ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4838G>A (p.Arg1613Gln)

dbSNP: rs1568565957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689201 SCV000816841 uncertain significance Rhabdoid tumor predisposition syndrome 2 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1645 of the SMARCA4 protein (p.Arg1645Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 568749). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SMARCA4 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002334272 SCV002642701 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-15 criteria provided, single submitter clinical testing The p.R1645Q variant (also known as c.4934G>A), located in coding exon 34 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 4934. The arginine at codon 1645 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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