Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001957299 | SCV002200370 | uncertain significance | not provided | 2023-03-25 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 660 of the CLCN5 protein (p.Ile660Val). This variant is present in population databases (rs782088515, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CLCN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1424968). 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 tolerated. 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. |
| Fulgent Genetics, |
RCV002491934 | SCV002803872 | uncertain significance | Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 2022-05-16 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002560477 | SCV003752799 | uncertain significance | Inborn genetic diseases | 2022-11-09 | criteria provided, single submitter | clinical testing | The c.1978A>G (p.I660V) alteration is located in exon 11 (coding exon 10) of the CLCN5 gene. This alteration results from a A to G substitution at nucleotide position 1978, causing the isoleucine (I) at amino acid position 660 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |