ClinVar Miner

Submissions for variant NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly)

gnomAD frequency: 0.00004  dbSNP: rs753554570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825291 SCV000966586 uncertain significance not specified 2018-04-12 criteria provided, single submitter clinical testing The p.Glu118Gly variant in CCDC50 has not been previously reported in individual s with hearing loss, but has been identified in 8/33554 Latino chromosomes by th e Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP r s753554570). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis suggest that the p.Glu118Gly variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly118Gly variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869262 SCV002258548 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 118 of the CCDC50 protein (p.Glu118Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs753554570, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with CCDC50-related conditions. ClinVar contains an entry for this variant (Variation ID: 666799). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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