ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1171A>G (p.Ile391Val)

dbSNP: rs587781586
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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 RCV000129630 SCV000184423 uncertain significance Hereditary cancer-predisposing syndrome 2013-09-27 criteria provided, single submitter clinical testing The p.I391V variant (also known as c.1171A>G) is located in coding exon 9 of the APC gene. This alteration results from a A to G substitution at nucleotide position 1171. The isoleucine at codon 391 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 0.02% (greater than 6000 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, this amino acid position is well conserved in available vertebrate species. However, 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.I391V remains unclear.

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