Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467693 | SCV000550379 | likely benign | Shprintzen-Goldberg syndrome | 2020-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621055 | SCV000738430 | uncertain significance | Cardiovascular phenotype | 2016-07-12 | criteria provided, single submitter | clinical testing | The p.P462A variant (also known as c.1384C>G), located in coding exon 4 of the SKI gene, results from a C to G substitution at nucleotide position 1384. The proline at codon 462 is replaced by alanine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs199797772. Based on data from ExAC, the G allele has an overall frequency of approximately 0.029% (29/100066). Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.59% (1/170) British alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.02% (3/12976) total alleles studied and 0.03% (3/8590) European American alleles. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other 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 this variant remains unclear. |
Ce |
RCV000658485 | SCV000780253 | likely benign | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001251642 | SCV001427380 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |