ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1185del (p.Glu395fs)

dbSNP: rs2149119265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941951 SCV002233111 pathogenic Familial adenomatous polyposis 2 2021-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu423Aspfs*29) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686).
Ambry Genetics RCV004044366 SCV005038201 pathogenic Hereditary cancer-predisposing syndrome 2024-01-25 criteria provided, single submitter clinical testing The c.1269delA pathogenic mutation, located in coding exon 13 of the MUTYH gene, results from a deletion of one nucleotide at nucleotide position 1269, causing a translational frameshift with a predicted alternate stop codon (p.E423Dfs*29). 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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