Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000244784 | SCV000319098 | likely benign | Cardiovascular phenotype | 2022-01-12 | 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 |
RCV001493429 | SCV001698056 | likely benign | Arrhythmogenic right ventricular dysplasia 9 | 2024-01-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001565325 | SCV001788653 | uncertain significance | not provided | 2023-02-15 | 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 |
| Stanford Center for Inherited Cardiovascular Disease, |
RCV000223702 | SCV000280418 | uncertain significance | not specified | 2011-08-01 | no assertion criteria provided | clinical testing | Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. PKP2 p.Pro244Ala This variant is novel. This variant results in proline at codon 244 being replaced by alanine, an amino acid with some similar properties. In silico analysis with PolyPhen-2 predicts the variant to be possibly damaging. Mutation taster predicts this variant to be a polymorphism. The proline at codon 244 is not well conserved across species, nor are neighboring amino acids, although Ambry reports that the proline is conserved on sequence alignment (no details given). No other variants have been reported in association with disease at this codon nor at nearby codons. In total the variant has not been seen in ~6,500 individuals from publicly available population datasets. There is no variation at codon 244 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6,500 Caucasian and African American individuals (as of 9/20/13). Note that this dataset does not match the patient's ancestry (Mexico/N. American). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of 9/20/13). |