ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.506del (p.Pro169fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003525758 SCV004261638 pathogenic Familial meningioma 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro169Argfs*3) in the SMARCE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCE1 are known to be pathogenic (PMID: 23377182). 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. For these reasons, this variant has been classified as Pathogenic.

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