ClinVar Miner

Submissions for variant NM_001387283.1(SMARCA4):c.4232A>G (p.Gln1411Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002328131 SCV002630448 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-14 criteria provided, single submitter clinical testing The p.Q1411R variant (also known as c.4232A>G), located in coding exon 29 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 4232. The glutamine at codon 1411 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094595 SCV002976484 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-01-05 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 not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1411 of the SMARCA4 protein (p.Gln1411Arg).

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