ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.794A>C (p.Asn265Thr) (rs587778534)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410208 SCV000487338 uncertain significance MYH-associated polyposis 2016-03-03 criteria provided, single submitter clinical testing
Invitae RCV000410208 SCV000545791 uncertain significance MYH-associated polyposis 2020-09-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 279 of the MUTYH protein (p.Asn279Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with MUTYH-associated polyposis (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 134857). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000491219 SCV000580082 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing The p.N279T variant (also known as c.836A>C), located in coding exon 10 of the MUTYH gene, results from an A to C substitution at nucleotide position 836. The asparagine at codon 279 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985864 SCV001134487 uncertain significance not provided 2019-04-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV000491219 SCV001352103 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-06 criteria provided, single submitter clinical testing
ITMI RCV000121590 SCV000085786 not provided not specified 2013-09-19 no assertion provided reference population

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