ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.1235G>T (p.Arg412Leu) (rs748700385)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219054 SCV000278437 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing The p.R426L variant (also known as c.1277G>T), located in coding exon 13 of the MUTYH gene, results from a G to T substitution at nucleotide position 1277. The arginine at codon 426 is replaced by leucine, an amino acid with dissimilar 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.
Invitae RCV000233765 SCV000285922 uncertain significance MYH-associated polyposis 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 426 of the MUTYH protein (p.Arg426Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs748700385, ExAC 0.006%). This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 233962). 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, 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.
Counsyl RCV000233765 SCV000487373 uncertain significance MYH-associated polyposis 2016-08-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000219054 SCV000685561 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-22 criteria provided, single submitter clinical testing

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