ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.202T>C (p.Phe68Leu)

dbSNP: rs1553130266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572435 SCV000673995 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing The p.F96L variant (also known as c.286T>C), located in coding exon 3 of the MUTYH gene, results from a T to C substitution at nucleotide position 286. The phenylalanine at codon 96 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528992 SCV003015590 uncertain significance Familial adenomatous polyposis 2 2022-11-28 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. 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 485897). 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 phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 96 of the MUTYH protein (p.Phe96Leu).
Baylor Genetics RCV002528992 SCV004198891 uncertain significance Familial adenomatous polyposis 2 2023-08-20 criteria provided, single submitter clinical testing

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