ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp)

gnomAD frequency: 0.00001  dbSNP: rs781539973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459432 SCV000548428 uncertain significance Rhabdoid tumor predisposition syndrome 2 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 704 of the SMARCA4 protein (p.Arg704Trp). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 408645). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMARCA4 protein function. 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 RCV001014500 SCV001175214 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-09 criteria provided, single submitter clinical testing The c.2110C>T (p.R704W) alteration is located in exon 14 (coding exon 13) of the SMARCA4 gene. This alteration results from a C to T substitution at nucleotide position 2110, causing the arginine (R) at amino acid position 704 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001809371 SCV002056818 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000459432 SCV005052777 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-12-14 criteria provided, single submitter clinical testing

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