ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.946_952del (p.Leu316fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003226893 SCV003922062 likely pathogenic Basal cell nevus syndrome 2 2023-05-05 criteria provided, single submitter clinical testing The variant c.946_952del (p.(Leu316Serfs*43)) in exon 8 of the SUFU gene is not found in the gnomAD database and it creates a frame shift starting at codon Leu316. The new reading frame ends in a STOP codon at position 43. Truncating variants in the SUFU gene are a known mechanism of disease. ACMG criteria used for classification: PVS1, PM2.

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