ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)

gnomAD frequency: 0.00006  dbSNP: rs143782870
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Total submissions: 4
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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 RCV000155045 SCV000204729 uncertain significance not specified 2018-02-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val623Ile var iant in CDH23 has been previously reported by our laboratory in the homozygous s tate in 1 individual with hearing loss with delayed walking; however, this patie nt harbored a homozygous likely pathogenic variant in another gene that explaine d the phenotype. This variant has also been identified in 0.13% (39/29954) of So uth Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad. broadinstitute.org/; dbSNP rs143782870); however its frequency is not high enoug h to rule out a pathogenic role. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Val623Ile variant is uncer tain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_P, BP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001060903 SCV001225623 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484934 SCV002779365 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-05-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831962 SCV002094385 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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