Submissions for variant NM_001048174.2(MUTYH):c.192dup (p.Val65fs)

dbSNP: rs1570443585

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000814319	SCV000954723	pathogenic	Familial adenomatous polyposis 2	2018-10-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val93Serfs*28) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant has not been reported in the literature in individuals with MUTYH-related disease. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics	RCV002433972	SCV002747197	pathogenic	Hereditary cancer-predisposing syndrome	2021-07-07	criteria provided, single submitter	clinical testing	The c.276dupA variant, located in coding exon 3 of the MUTYH gene, results from a duplication of A at nucleotide position 276, causing a translational frameshift with a predicted alternate stop codon (p.V93Sfs*28). 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.