ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-11C>G (rs786201933)

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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 RCV000164470 SCV000215114 uncertain significance Hereditary cancer-predisposing syndrome 2014-06-09 criteria provided, single submitter clinical testing The p.V5L variant (also known as c.13G>C), located in coding exon 1 of the MUTYH gene, results from a G to C substitution at nucleotide position 13. The valine at codon 5 is replaced by leucine, 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 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.005% (greater than 21000 alleles tested) in our clinical cohort (includes this individual). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.V5L remains unclear.

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