ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)

gnomAD frequency: 0.00002  dbSNP: rs1050237
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562340 SCV000672139 likely benign Hereditary cancer-predisposing syndrome 2021-05-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000646818 SCV000768603 uncertain significance Rhabdoid tumor predisposition syndrome 2 2025-01-19 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 569 of the SMARCA4 protein (p.Arg569Gln). This variant is present in population databases (rs1050237, gnomAD 0.003%). This missense change has been observed in individual(s) with SMARCA4-related conditions (PMID: 37500730). ClinVar contains an entry for this variant (Variation ID: 484868). 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.
Genome-Nilou Lab RCV001809627 SCV002056445 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV002509449 SCV002819048 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001809627 SCV003823972 uncertain significance Intellectual disability, autosomal dominant 16 2021-06-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000646818 SCV004204931 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027674 SCV005654285 uncertain significance Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Otosclerosis 12 2024-05-26 criteria provided, single submitter clinical testing

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