ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.504+2T>C (rs587782730)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132227 SCV000187310 likely pathogenic Hereditary cancer-predisposing syndrome 2014-04-11 criteria provided, single submitter clinical testing
Invitae RCV000530394 SCV000639329 likely pathogenic MYH-associated polyposis 2017-03-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the MUTYH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a MUTYH-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in MUTYH are known to be pathogenic (PMID: 20663686, 18534194). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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