ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)

dbSNP: rs1555750818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563579 SCV000664296 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing The p.S41G variant (also known as c.121A>G), located in coding exon 1 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 121. The serine at codon 41 is replaced by glycine, an amino acid with similar properties. This amino acid position is well 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 RCV000646795 SCV000768580 uncertain significance Rhabdoid tumor predisposition syndrome 2 2024-05-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 41 of the SMARCA4 protein (p.Ser41Gly). This variant is not present in population databases (gnomAD no frequency). 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: 480692). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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 RCV001809607 SCV002056253 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000646795 SCV004204932 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-08-16 criteria provided, single submitter clinical testing

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