ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.932C>G (p.Pro311Arg)

gnomAD frequency: 0.00004  dbSNP: rs759754994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823057 SCV000963896 uncertain significance Rhabdoid tumor predisposition syndrome 2 2025-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 311 of the SMARCA4 protein (p.Pro311Arg). This variant is present in population databases (rs759754994, gnomAD 0.008%). 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: 664876). 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 80%. 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 RCV001019175 SCV001180500 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-05 criteria provided, single submitter clinical testing The p.P311R variant (also known as c.932C>G), located in coding exon 5 of the SMARCA4 gene, results from a C to G substitution at nucleotide position 932. The proline at codon 311 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome-Nilou Lab RCV001809845 SCV002056381 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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