ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.305-11C>G

gnomAD frequency: 0.00001  dbSNP: rs1488458340
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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 RCV001175806 SCV001339527 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-19 criteria provided, single submitter clinical testing This variant causes a C>G nucleotide substitution at the -11 position of intron 4 of the MUTYH gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/31386 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002067872 SCV002346453 likely benign Familial adenomatous polyposis 2 2023-11-15 criteria provided, single submitter clinical testing

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