Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478263 | SCV000569560 | likely pathogenic | not provided | 2016-03-05 | criteria provided, single submitter | clinical testing | The c.338_340delTGG variant in the RPS19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.338_340delTGG variant causes an in-frame deletion of one amino acid, Valine 113, denoted p.Val113del. This deletion occurs at a position where amino acids with similar properties to Valine are tolerated across species. The c.338_340delTGG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.338_340delTGG variant is a strong candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded. |
Ambry Genetics | RCV002455923 | SCV002616868 | likely pathogenic | Diamond-Blackfan anemia | 2016-11-03 | criteria provided, single submitter | clinical testing | The c.338_340delTGG pathogenic mutation (also known as p.V113DEL) is located in coding exon 3 of the RPS19 gene. This pathogenic mutation results from an in-frame TGG deletion at nucleotide positions 338 to 340. This results in the in-frame deletion of a valine at codon 113. This variant has been determined to be the result of a de novo mutation in an individual with a clinical diagnosis of Diamond-Blackfan anemia. 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. This amino acid position is highly conserved in available mammal species. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |