ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.218T>C (p.Leu73Pro)

dbSNP: rs876660011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219482 SCV000277063 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-06 criteria provided, single submitter clinical testing The p.L101P variant (also known as c.302T>C), located in coding exon 3 of the MUTYH gene, results from a T to C substitution at nucleotide position 302. The leucine at codon 101 is replaced by proline, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 75000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.L101P remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853603 SCV002164168 uncertain significance Familial adenomatous polyposis 2 2021-12-11 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 232821). 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 leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 101 of the MUTYH protein (p.Leu101Pro).

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