ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu)

gnomAD frequency: 0.00001  dbSNP: rs587781601
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129675 SCV000184474 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing The p.F358L variant (also known as c.1072T>C), located in coding exon 12 of the MUTYH gene, results from a T to C substitution at nucleotide position 1072. The phenylalanine at codon 358 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000226144 SCV000285914 uncertain significance Familial adenomatous polyposis 2 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 358 of the MUTYH protein (p.Phe358Leu). This variant is present in population databases (rs587781601, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 141246). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV000226144 SCV000487358 uncertain significance Familial adenomatous polyposis 2 2016-05-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129675 SCV000685537 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-09 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with leucine at codon 358 of the MUTYH protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/248812 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759879 SCV000889519 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing

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