Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001084681 | SCV001335318 | likely benign | RASopathy | 2020-03-09 | reviewed by expert panel | curation | The c.1113T>C (p.Asp371=) is present in 7/1113684 European alleles (MAF 2.88e-05, 95% CI) gnomAD v2.1.1. Sixteen apparently unaffected parental samples involved in whole exome testing were observed with this variant supporting that this variant is likely benign; however, this evidence does not meet current scoring criteria for BS2 at this time (BS2 not met; SCV000515669.4). This variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the p.Asp371= variant does not impact the protein (BP4). In summary, the clinical significance of the p.Asp371= variant is likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP4. |
Gene |
RCV000157688 | SCV000515669 | likely benign | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618075 | SCV000736067 | likely benign | Cardiovascular phenotype | 2017-10-24 | 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 |
RCV001084681 | SCV001010386 | likely benign | RASopathy | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505186 | SCV002805470 | likely benign | LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000157688 | SCV000207672 | uncertain significance | not provided | 2015-01-15 | no assertion criteria provided | clinical testing |