ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.674C>G (p.Pro225Arg)

gnomAD frequency: 0.00001  dbSNP: rs564919438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000579687 SCV000685668 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001764700 SCV002000954 uncertain significance not provided 2020-03-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001860050 SCV002108306 uncertain significance Familial adenomatous polyposis 2 2023-05-01 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 490039). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is present in population databases (rs564919438, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 253 of the MUTYH protein (p.Pro253Arg).
Ambry Genetics RCV000579687 SCV005144055 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-01 criteria provided, single submitter clinical testing The p.P253R variant (also known as c.758C>G), located in coding exon 9 of the MUTYH gene, results from a C to G substitution at nucleotide position 758. The proline at codon 253 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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