ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)

gnomAD frequency: 0.00001  dbSNP: rs936479651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002248478 SCV002520609 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 criteria provided, single submitter clinical testing PM1 strong, PM2 supporting, PM3 supporting, PP1 supporting, PP3 supporting
Baylor Genetics RCV003475310 SCV004210656 likely pathogenic Pituitary adenoma 5, multiple types 2023-07-08 criteria provided, single submitter clinical testing
Invitae RCV003738165 SCV004552948 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1687042). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDH23 protein function. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with non-syndromic deafness (PMID: 35020051, 35062939, 35248088). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 269 of the CDH23 protein (p.Arg269Trp).

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