ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)

dbSNP: rs775907713
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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 RCV001236652 SCV001409384 uncertain significance Familial meningioma 2023-11-10 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 393 of the SMARCE1 protein (p.Ser393Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 962742). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Baylor Genetics RCV001236652 SCV005052823 uncertain significance Familial meningioma 2024-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004679026 SCV005171225 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-09 criteria provided, single submitter clinical testing The p.S393G variant (also known as c.1177A>G), located in coding exon 10 of the SMARCE1 gene, results from an A to G substitution at nucleotide position 1177. The serine at codon 393 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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