Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067379 | SCV001232437 | uncertain significance | Bardet-Biedl syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 138 of the WDPCP protein (p.Ser138Phe). This variant is present in population databases (rs756891717, 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: 860971). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WDPCP protein function. 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. |
Fulgent Genetics, |
RCV002497469 | SCV002807002 | uncertain significance | Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 | 2022-02-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003425911 | SCV004117196 | uncertain significance | WDPCP-related condition | 2024-02-08 | criteria provided, single submitter | clinical testing | The WDPCP c.413C>T variant is predicted to result in the amino acid substitution p.Ser138Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of Latino descent in gnomAD, which may be too common to be an undocumented primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence. |