ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.882C>T (p.Gly294=)

dbSNP: rs2135882176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001374083 SCV001570855 likely benign Gorlin syndrome; Medulloblastoma 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447496 SCV002682707 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-18 criteria provided, single submitter clinical testing The c.882C>T variant (also known as p.G294G), located in coding exon 7 of the SUFU gene, results from a C to T substitution at nucleotide position 882. This nucleotide substitution does not change the at codon 294. However, this change occurs in the base pair of coding exon 7, which makes it likely to have some effect on normal mRNA splicing. 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004762135 SCV005368984 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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