ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.739C>G (p.Arg247Gly) (rs587782885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000767386 SCV001218140 uncertain significance MYH-associated polyposis 2019-02-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 247 of the MUTYH protein (p.Arg247Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant has been reported to affect MUTYH protein function (PMID: 26694661). 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.
Molecular Oncology Laboratory,Hospital Clínico San Carlos RCV000767386 SCV000844931 likely pathogenic MYH-associated polyposis 2018-06-01 no assertion criteria provided clinical testing

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