ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1417C>A (p.Gln473Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002389943 SCV002700567 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-31 criteria provided, single submitter clinical testing The p.Q501K variant (also known as c.1501C>A), located in coding exon 15 of the MUTYH gene, results from a C to A substitution at nucleotide position 1501. The glutamine at codon 501 is replaced by lysine, 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 140000 alleles tested) in our clinical cohort. This amino acid position is not 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 p.Q501K remains unclear.

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