ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.683+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002369650 SCV002664969 likely pathogenic Hereditary cancer-predisposing syndrome 2020-03-26 criteria provided, single submitter clinical testing The c.683+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 5 in the SUFU gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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