ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-8G>C (rs587782404)

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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 RCV000131438 SCV000186420 uncertain significance Hereditary cancer-predisposing syndrome 2013-08-22 criteria provided, single submitter clinical testing ​The p.L4V (also known as c.10C>G) variant is located in coding exon 1 of the MUTYH gene. This variant results from an C to G substitution at nucleotide position 10. The leucine at codon 4 is replaced by valine, 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. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 6600 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, this amino acid position is poorly 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.L4V remains unclear.

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