Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728696 | SCV000856301 | uncertain significance | not provided | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352239 | SCV002656146 | uncertain significance | Cardiovascular phenotype | 2016-07-16 | criteria provided, single submitter | clinical testing | The p.L20P variant (also known as c.59T>C), located in coding exon 1 of the JAG1 gene, results from a T to C substitution at nucleotide position 59. The leucine at codon 20 is replaced by proline, an amino acid with similar properties. This alteration was detected in an individual with suspected Alagille syndrome; however, specific clinical symptoms were not provided (Guegan K, Clin. Genet. 2012; 82(1):33-40). 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 5030 samples (10060 alleles) with coverage at this position. This amino acid position is well 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.L20P remains unclear. |