ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)

dbSNP: rs794727430
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
Eurofins Ntd Llc (ga) RCV000176698 SCV000228395 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing
Invitae RCV000475008 SCV000552112 uncertain significance Nephronophthisis 2022-06-11 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with NPHP3-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1270 of the NPHP3 protein (p.Leu1270Pro). ClinVar contains an entry for this variant (Variation ID: 195995). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.
Fulgent Genetics, Fulgent Genetics RCV002485148 SCV002781191 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-07-21 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.