ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.117C>T (p.Gly39=)

gnomAD frequency: 0.00001  dbSNP: rs1557487475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186119 SCV001352463 likely benign Hereditary cancer-predisposing syndrome 2019-02-26 criteria provided, single submitter clinical testing
Invitae RCV001862928 SCV002301276 uncertain significance Familial adenomatous polyposis 2 2023-10-08 criteria provided, single submitter clinical testing This sequence change affects codon 67 of the MUTYH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MUTYH protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 924645). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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