ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1363A>C (p.Thr455Pro)

dbSNP: rs1570363119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001700864 SCV005622956 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing The MUTYH c.1447A>C (p.Thr483Pro) variant has not been reported in individuals with MUTYH-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Clinical Genetics, Academic Medical Center RCV001700864 SCV001925519 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726632 SCV001963587 benign not specified no assertion criteria provided clinical testing

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