Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002315176 | SCV000739575 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-06-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Labcorp Genetics |
RCV000655074 | SCV000776999 | uncertain significance | Aortic aneurysm, familial thoracic 8 | 2024-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 643 of the PRKG1 protein (p.Arg643Lys). This variant is present in population databases (rs770812712, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PRKG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 520133). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479175 | SCV004223816 | uncertain significance | not specified | 2023-11-14 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003945564 | SCV004776013 | uncertain significance | PRKG1-related disorder | 2024-02-15 | no assertion criteria provided | clinical testing | The PRKG1 c.1928G>A variant is predicted to result in the amino acid substitution p.Arg643Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |