ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.505-2A>C (rs786203161)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166350 SCV000217138 likely pathogenic Hereditary cancer-predisposing syndrome 2018-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without splicing assay data in support of pathogenicity
Invitae RCV000694454 SCV000822901 likely pathogenic MYH-associated polyposis 2018-08-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 186709). 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). 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.
Mendelics RCV000694454 SCV000837776 likely pathogenic MYH-associated polyposis 2018-07-02 criteria provided, single submitter clinical testing

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