Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522336 | SCV000618067 | uncertain significance | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SKI gene. The V370A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 12/126,684 alleles (0.01%) from individuals of European (Non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The V370A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. |
Invitae | RCV001857959 | SCV002210879 | likely benign | Shprintzen-Goldberg syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001857959 | SCV002775591 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-09-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001857959 | SCV004565030 | uncertain significance | Shprintzen-Goldberg syndrome | 2023-04-17 | criteria provided, single submitter | clinical testing | The SKI c.1109T>C; p.Val370Ala variant (rs138088528), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 449711). This variant is found in the non-Finnish European population with an allele frequency of 0.0093% (12/129,096 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.172). Due to limited information, the clinical significance of this variant is uncertain at this time. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000522336 | SCV001951556 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000522336 | SCV001971819 | likely benign | not provided | no assertion criteria provided | clinical testing |