ClinVar Miner

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

dbSNP: rs1570443585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

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