ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2404A>G (p.Ile802Val)

gnomAD frequency: 0.00001  dbSNP: rs1454445195
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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 RCV001913830 SCV002183310 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-05-07 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 tolerated. This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 802 of the SMARCA4 protein (p.Ile802Val).
Ambry Genetics RCV002458781 SCV002738553 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-20 criteria provided, single submitter clinical testing The p.I802V variant (also known as c.2404A>G), located in coding exon 15 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 2404. The isoleucine at codon 802 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well 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.

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