ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.451A>C (p.Ile151Leu) (rs876659313)

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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 RCV000217917 SCV000275640 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing The p.I151L variant (also known as c.451A>C), located in coding exon 2 of the VHL gene, results from an A to C substitution at nucleotide position 451. The isoleucine at codon 151 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 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 7,300 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.I151L remains unclear.

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