ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)

gnomAD frequency: 0.00001  dbSNP: rs768536854
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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 RCV000638913 SCV000760468 uncertain significance Familial meningioma 2023-09-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. This variant is present in population databases (rs768536854, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 311 of the SMARCE1 protein (p.Ala311Val). ClinVar contains an entry for this variant (Variation ID: 532236). 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. 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 SMARCE1 protein function.
Ambry Genetics RCV001019177 SCV001180502 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-15 criteria provided, single submitter clinical testing The p.A311V variant (also known as c.932C>T), located in coding exon 9 of the SMARCE1 gene, results from a C to T substitution at nucleotide position 932. The alanine at codon 311 is replaced by valine, an amino acid with similar properties. This amino acid position is highly 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.
Baylor Genetics RCV000638913 SCV004205032 uncertain significance Familial meningioma 2023-09-25 criteria provided, single submitter clinical testing

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