ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser)

gnomAD frequency: 0.00006  dbSNP: rs769599110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375416 SCV001571945 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
GeneDx RCV002276718 SCV002567420 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002493911 SCV002778979 uncertain significance Autosomal recessive nonsyndromic hearing loss 29 2021-12-22 criteria provided, single submitter clinical testing
Invitae RCV002276718 SCV003451785 uncertain significance not provided 2022-02-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 122 of the CLDN14 protein (p.Gly122Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1065076). This variant has not been reported in the literature in individuals affected with CLDN14-related conditions. This variant is present in population databases (rs769599110, gnomAD 0.01%).

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