ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.586G>C (p.Glu196Gln)

dbSNP: rs753985914
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732185 SCV000860105 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000732185 SCV001497045 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 196 of the CDH23 protein (p.Glu196Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs753985914, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 596373). 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: "Not Available"; 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.
Natera, Inc. RCV001825470 SCV002086812 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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