ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.171dup (p.Val58fs)

dbSNP: rs1554840869
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463016 SCV000544985 pathogenic Gorlin syndrome; Medulloblastoma 2016-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change inserts 1 nucleotide in exon 1 of the SUFU mRNA (c.171dupC), causing a frameshift at codon 58. This creates a premature translational stop signal (p.Val58Argfs*15) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808).

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