ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe)

gnomAD frequency: 0.00003  dbSNP: rs199625785
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001352413 SCV001546965 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-17 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 1145 of the WDR19 protein (p.Ser1145Phe). This variant is present in population databases (rs199625785, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047670). 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) performed at Invitae indicates that this missense variant is not expected to disrupt WDR19 protein function with a negative predictive value of 80%. 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 RCV004036685 SCV004981144 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.3434C>T (p.S1145F) alteration is located in exon 31 (coding exon 31) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 3434, causing the serine (S) at amino acid position 1145 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038115 SCV005665256 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-25 criteria provided, single submitter clinical testing

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.