Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000005125 | SCV000930451 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 29 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762034 | SCV002000763 | uncertain significance | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | Published functional studies suggest the variant may impair polymerization of the CLDN14 protein and interfere with the formation of tight junction strands, however additional studies are needed to determine the significance of this effect (Wattenhofer M et al., 2005); 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: 34426522, 31589614, 31527509, 33105617, 27838790, 22246673, 24752540, 29447821, 15880785) |
Invitae | RCV001762034 | SCV002210743 | uncertain significance | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 101 of the CLDN14 protein (p.Gly101Arg). This variant is present in population databases (rs74315438, gnomAD 0.008%). 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. Experimental studies have shown that this missense change affects CLDN14 function (PMID: 15880785). 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. ClinVar contains an entry for this variant (Variation ID: 4852). This missense change has been observed in individual(s) with deafness (PMID: 15880785, 33105617; Invitae). |
OMIM | RCV000005125 | SCV000025302 | pathogenic | Autosomal recessive nonsyndromic hearing loss 29 | 2005-06-01 | no assertion criteria provided | literature only |