ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-5G>C (rs876659091)

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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 RCV000217552 SCV000275136 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-16 criteria provided, single submitter clinical testing The p.P3A variant (also known as c.7C>G), located in coding exon 1 of the MUTYH gene, results from a C to G substitution at nucleotide position 7. The proline at codon 3 is replaced by alanine, an amino acid with highly 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. <span style="font-family:arial,sans-serif; font-size:9pt">To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 75000alleles tested) in our clinical cohort. Based on protein <span style="font-family:arial,sans-serif; font-size:9pt">sequence alignment, thisamino acid position is moderately 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.P3Aremains unclear.

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