ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1234_1235insTTT (p.*412Pheext*1)

dbSNP: rs2143980165
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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 RCV001907501 SCV002123659 uncertain significance Familial meningioma 2021-02-24 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SMARCE1 gene (p.*412Pheext*1). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the stop codon of the SMARCE1 protein and extend the protein by 1 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCE1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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