Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375416 | SCV001571945 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PP3_Supporting |
Gene |
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, |
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%). |