ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.264+1G>A

dbSNP: rs1553130042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800982 SCV000940729 likely pathogenic Familial adenomatous polyposis 2 2020-05-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MUTYH-related disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 3 of the MUTYH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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