ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6980T>A (p.Leu2327His)

gnomAD frequency: 0.00001  dbSNP: rs995094571
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046611 SCV001210520 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with histidine at codon 2327 of the CDH23 protein (p.Leu2327His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375226 SCV001571976 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate
PreventionGenetics, part of Exact Sciences RCV003945790 SCV004767009 uncertain significance CDH23-related condition 2023-11-09 criteria provided, single submitter clinical testing The CDH23 c.6980T>A variant is predicted to result in the amino acid substitution p.Leu2327His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-73558261-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001274907 SCV001459460 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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