Submissions for variant NM_016169.4(SUFU):c.37_53del (p.Thr13fs)

dbSNP: rs2135597189

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001385355	SCV001585186	pathogenic	Gorlin syndrome; Medulloblastoma	2022-02-11	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072595). This premature translational stop signal has been observed in individual(s) with medulloblastoma (PMID: 29489754, 29753700). This sequence change creates a premature translational stop signal (p.Thr13Trpfs*29) in the SUFU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219).
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV004789565	SCV005399176	pathogenic	Gorlin syndrome	2020-05-21	criteria provided, single submitter	clinical testing	A heterozygous deletion variant was identified, NM_016169.3(SUFU):c.37_53del in exon 1 of 12 of the SUFU gene. This deletion is predicted to cause a frameshift from amino acid position 13 introducing a stop codon downstream; NP_057253.2(SUFU):p.(Thr13Trpfs*29), resulting in nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database and the variant has not been previously observed in clinical cases. Other variants predicted to cause NMD have been reported as pathogenic in individuals with Gorlin syndrome (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign