ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) (rs786202133)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164793 SCV000215473 uncertain significance Hereditary cancer-predisposing syndrome 2014-06-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659899 SCV000781801 likely pathogenic MYH-associated polyposis 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659899 SCV000941084 uncertain significance MYH-associated polyposis 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 448 of the MUTYH protein (p.His448Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with primary sclerosing cholangitis (PMID: 19443904). The MUTYH gene and this variant are also called hMYH and His434Asp in the literature. ClinVar contains an entry for this variant (Variation ID: 185383). An experimental study has shown that this missense change impairs the adenine DNA glycosylase activity of the MUTYH protein on excising adenines from A:G mispairs, but not from A:8oxoG pairs (PMID: 19443904). 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.

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