ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) (rs113364886)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248210 SCV000316285 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248210 SCV000339422 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000248210 SCV000619084 uncertain significance not specified 2017-07-19 criteria provided, single submitter clinical testing The F1324S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The F1324S variant is observed in 37/10,402 (0.36%) and 6/11,546 (0.05%) alleles from individuals of African and Latino background, respectively (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Phenylalanine are tolerated across species. However, this variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000542228 SCV000636164 likely benign Nephronophthisis 2017-01-17 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.