Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000553604 | SCV000659240 | likely benign | Aortic aneurysm, familial thoracic 8 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315043 | SCV000739572 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-04-23 | criteria provided, single submitter | clinical testing | The p.T298I variant (also known as c.893C>T), located in coding exon 7 of the PRKG1 gene, results from a C to T substitution at nucleotide position 893. The threonine at codon 298 is replaced by isoleucine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs140716870. Based on data from ExAC, the T allele was reported in 13 of 119900 (0.01%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed February 29, 2016]). Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (3/13006) total alleles studied, having been observed in 0.07% (3/4406) African American alleles. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Gene |
RCV001556824 | SCV001778473 | uncertain significance | not provided | 2024-10-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |