ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.1514G>A (p.Arg505Gln) (rs369410616)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115761 SCV000149670 uncertain significance not provided 2021-03-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer (Nones 2019); This variant is associated with the following publications: (PMID: 31090900)
Invitae RCV000123146 SCV000166449 uncertain significance MYH-associated polyposis 2020-06-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 519 of the MUTYH protein (p.Arg519Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs369410616, ExAC 0.02%). This variant has been observed in an individual with breast cancer (PMID: 31090900). ClinVar contains an entry for this variant (Variation ID: 127841). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV000216371 SCV000273075 likely benign Hereditary cancer-predisposing syndrome 2017-11-27 criteria provided, single submitter clinical testing Other strong data
Color Health, Inc RCV000216371 SCV000690536 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-29 criteria provided, single submitter clinical testing
Counsyl RCV000123146 SCV000793684 uncertain significance MYH-associated polyposis 2017-08-22 criteria provided, single submitter clinical testing

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