Total submissions: 6
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, |
RCV000001426 | SCV001424990 | likely pathogenic | Renal hypomagnesemia 5 with ocular involvement | 2020-02-01 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV000001426 | SCV001752656 | pathogenic | Renal hypomagnesemia 5 with ocular involvement | 2022-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
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 |