ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)

gnomAD frequency: 0.00001  dbSNP: rs756891717
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, 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
PreventionGenetics, part of Exact Sciences 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.