ClinVar Miner

Submissions for variant NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)

gnomAD frequency: 0.00003  dbSNP: rs118203979
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823362 SCV000964216 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 20 of the CLDN19 protein (p.Gly20Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (PMID: 17033971, 23301036, 25366522, 25410674, 27530400). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1361). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CLDN19 function (PMID: 17033971, 18188451). For these reasons, this variant has been classified as Pathogenic.
Molecular Biology Laboratory, Fundació Puigvert RCV000001426 SCV001424990 likely pathogenic Renal hypomagnesemia 5 with ocular involvement 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000001426 SCV001752656 pathogenic Renal hypomagnesemia 5 with ocular involvement 2022-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000823362 SCV003915342 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein trafficking and/or assembly, impairing its function during renal tubular and retinal epithelial development (Konrad et al., 2006; Wang et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 18188451, Xu2017[abstract], 25366522, 30937396, 25317625, 17033971, 27530400, 22422540, 34425238, 31694170, 33532864, 25410674)
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000001426 SCV004100582 pathogenic Renal hypomagnesemia 5 with ocular involvement criteria provided, single submitter clinical testing
OMIM RCV000001426 SCV000021576 pathogenic Renal hypomagnesemia 5 with ocular involvement 2006-11-01 no assertion criteria provided literature only

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.