ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)

gnomAD frequency: 0.00001  dbSNP: rs1270010378
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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 RCV001320009 SCV001510779 uncertain significance Familial meningioma 2023-04-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 387 of the SMARCE1 protein (p.Thr387Pro). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 1020430). 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. 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 RCV004034992 SCV005020468 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-24 criteria provided, single submitter clinical testing The p.T387P variant (also known as c.1159A>C), located in coding exon 10 of the SMARCE1 gene, results from an A to C substitution at nucleotide position 1159. The threonine at codon 387 is replaced by proline, an amino acid with highly 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. This variant has been detected in multiple individuals with no reported features of Coffin-Siris syndrome (Ambry internal data). Based on the supporting evidence, the association of this alteration with an increased risk of meningiomas is unknown; however, the association of this alteration with Coffin-Siris syndrome is unlikely.
Baylor Genetics RCV001320009 SCV005052832 uncertain significance Familial meningioma 2023-11-21 criteria provided, single submitter clinical testing

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