ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1240-2A>C

dbSNP: rs1644799870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177835 SCV001342107 likely pathogenic Hereditary cancer-predisposing syndrome 2022-01-28 criteria provided, single submitter clinical testing This variant causes an A to C nucleotide substitution at the -2 position of intron 13 of the MUTYH gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.

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