Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000413839 | SCV000491939 | uncertain significance | not specified | 2016-11-22 | criteria provided, single submitter | clinical testing | The R663H variant of uncertain significance in the ABCC9 gene has not been published as a pathogenic or benign variant to our knowledge. This substitution occurs at a position that is conserved across species, and the majority of in silico tools predict R663H is probably damaging to the protein structure/function. However, the R663H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, the Exome Aggregation Consortium reports R663H was observed in 0.28% of alleles from individuals of East Asian background, indicating it may be a rare benign variant in this population. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. |
| Labcorp Genetics |
RCV000862251 | SCV001002730 | likely benign | Dilated cardiomyopathy 1O | 2025-01-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002418236 | SCV002718421 | benign | Cardiovascular phenotype | 2021-06-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |