Submissions for variant NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)

dbSNP: rs1554852279

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529064	SCV000623116	pathogenic	Gorlin syndrome; Medulloblastoma	2021-02-18	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SUFU are known to be pathogenic (PMID: PMID: 22508808). This variant has not been reported in the literature in individuals with a SUFU-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr196Ilefs*40) in the SUFU gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics	RCV002358428	SCV002647781	pathogenic	Hereditary cancer-predisposing syndrome	2016-11-30	criteria provided, single submitter	clinical testing	The c.585_586dupTA pathogenic mutation, located in coding exon 4 of the SUFU gene, results from a duplication of TA at nucleotide position 585, causing a translational frameshift with a predicted alternate stop codon. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.