ClinVar Miner

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

dbSNP: 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 Familial adenomatous polyposis 2 2016-11-08 criteria provided, single submitter clinical testing 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. 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. 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.

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