ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met)

gnomAD frequency: 0.00001  dbSNP: rs766200637
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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 RCV000532044 SCV000637312 uncertain significance Familial meningioma 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 361 of the SMARCE1 protein (p.Thr361Met). This variant is present in population databases (rs766200637, gnomAD 0.003%). 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: 463412). 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 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.
Baylor Genetics RCV000532044 SCV004205027 uncertain significance Familial meningioma 2023-10-20 criteria provided, single submitter clinical testing
GeneDx RCV004772964 SCV005385127 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19245665)

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