ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003640292 SCV004456249 pathogenic Familial meningioma 2023-08-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 126 of the SMARCE1 protein (p.Tyr126Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Coffin–Siris syndrome (PMID: 27264197, 31675646). In at least one individual the variant was observed to be de novo. 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 expected to disrupt SMARCE1 protein function. For these reasons, this variant has been classified as Pathogenic.

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