ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr)

dbSNP: rs786204112
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000168050 SCV000218703 uncertain significance Familial adenomatous polyposis 2 2023-11-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 306 of the MUTYH protein (p.Cys306Tyr). 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: 188158). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV000569860 SCV000662621 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing The p.C306Y variant (also known as c.917G>A), located in coding exon 10 of the MUTYH gene, results from a G to A substitution at nucleotide position 917. The cysteine at codon 306 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000168050 SCV000793758 uncertain significance Familial adenomatous polyposis 2 2017-08-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000168050 SCV004198944 uncertain significance Familial adenomatous polyposis 2 2023-05-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000168050 SCV004840965 uncertain significance Familial adenomatous polyposis 2 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces cysteine with tyrosine at codon 306 of the MUTYH protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. 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). 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.

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