ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1080C>T (p.Gly360=)

dbSNP: rs2143980767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002211908 SCV002353731 likely benign Familial meningioma 2023-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681430 SCV005171200 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-02 criteria provided, single submitter clinical testing The c.1080C>T variant (also known as p.G360G), located in coding exon 10 of the SMARCE1 gene, results from a C to T substitution at nucleotide position 1080. This nucleotide substitution does not change the glycine residue at codon 360. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Based on the available evidence, the clinical significance of this alteration remains unclear.

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