Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001822272 | SCV002066321 | likely benign | not specified | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334708 | SCV002641403 | uncertain significance | Diamond-Blackfan anemia | 2014-08-28 | criteria provided, single submitter | clinical testing | The c.*1A>G variant is located in the 3' untranslated region (3 UTR) of the RPL5 gene. This variant results from an A to G substitution the last translated codon. This variant was previously reported in the SNPDatabase as rs11540833. Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0.1% (2/2098) total alleles studied. The highest observed frequency was 1.22% (2/164) Luhya alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.12% (15/12780) total alleles studied, having been observed in 0.34% (15/4366) African American alleles. This nucleotide position is not well conserved in available vertebrate species on limited alignment. In addition, G is the reference nucleotide in chicken, zebra finch and lizard. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |