ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.814del (p.Arg272fs)

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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 RCV003837972 SCV004631117 pathogenic Familial meningioma 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg272Glyfs*5) 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 premature translational stop signal has been observed in individual(s) with meningioma (PMID: 26803492). For these reasons, this variant has been classified as Pathogenic.

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