ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.739_756+12del

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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 RCV003177383 SCV003863849 likely pathogenic Hereditary cancer-predisposing syndrome 2024-02-29 criteria provided, single submitter clinical testing The c.739_756+12del30 variant results from a deletion of 30 nucleotides between positions c.739 and c.756+12 and involves the canonical splice donor site after coding exon 6 of the SUFU gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). The canonical splice donor site is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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