ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.99G>T (p.Lys33Asn)

dbSNP: rs375084663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255255 SCV002532234 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-12 criteria provided, single submitter curation
Ambry Genetics RCV002255255 SCV003855737 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-26 criteria provided, single submitter clinical testing The p.K47N variant (also known as c.141G>T), located in coding exon 2 of the MUTYH gene, results from a G to T substitution at nucleotide position 141. The lysine at codon 47 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003614093 SCV004464631 uncertain significance Familial adenomatous polyposis 2 2023-05-16 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1692570). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 47 of the MUTYH protein (p.Lys47Asn).

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