ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.683+3G>A

dbSNP: rs1590062961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025704 SCV001187947 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-08 criteria provided, single submitter clinical testing The c.683+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 5 in the SUFU gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769610 SCV004604871 likely benign Gorlin syndrome; Medulloblastoma 2023-08-10 criteria provided, single submitter clinical testing

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