ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)

gnomAD frequency: 0.00004  dbSNP: rs74315438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000005125 SCV000930451 likely pathogenic Autosomal recessive nonsyndromic hearing loss 29 2019-04-27 criteria provided, single submitter clinical testing
GeneDx 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

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