Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638352 | SCV000759849 | uncertain significance | Bardet-Biedl syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | This variant, c.760_786del, results in the deletion of 9 amino acid(s) of the WDPCP protein (p.Pro254_Ala262del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774995085, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. ClinVar contains an entry for this variant (Variation ID: 531819). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Ambry Genetics | RCV002529877 | SCV003685767 | likely benign | Inborn genetic diseases | 2021-12-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Prevention |
RCV003420114 | SCV004108078 | uncertain significance | WDPCP-related condition | 2023-12-29 | criteria provided, single submitter | clinical testing | The WDPCP c.760_786del27 variant is predicted to result in an in-frame deletion (p.Pro254_Ala262del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |