ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.1A>C (p.Met1Leu) (rs865954220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464651 SCV000545801 uncertain significance MYH-associated polyposis 2016-11-08 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MUTYH mRNA. While it is expected to result in an absent or disrupted protein product, alternate in-frame methionines downstream of the initiator codon could potentially rescue the translation initiation. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MUTYH-related disease. In summary, this variant is a novel change to the initiator codon with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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