ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)

dbSNP: rs1600643911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023041 SCV001184856 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-02 criteria provided, single submitter clinical testing The p.Q1594H variant (also known as c.4782G>C), located in coding exon 33 of the SMARCA4 gene, results from a G to C substitution at nucleotide position 4782. The glutamine at codon 1594 is replaced by histidine, 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 RCV001040447 SCV001204023 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-12-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 1594 of the SMARCA4 protein (p.Gln1594His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.
Genome-Nilou Lab RCV001809947 SCV002056972 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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