ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-27C>T (rs755928199)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527208 SCV000639306 uncertain significance MYH-associated polyposis 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 10 of the MUTYH protein (p.Arg10His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs755928199, ExAC 0.009%). This variant has not been reported in the literature in individuals with a MUTYH-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on MUTYH function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000565975 SCV000662640 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-07 criteria provided, single submitter clinical testing The p.R10H variant (also known as c.29G>A), located in coding exon 1 of the MUTYH gene, results from a G to A substitution at nucleotide position 29. The arginine at codon 10 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.

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