ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5149T>A (p.Cys1717Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002802808 SCV003593370 uncertain significance Inborn genetic diseases 2024-07-25 criteria provided, single submitter clinical testing The c.5149T>A (p.C1717S) alteration is located in exon 40 (coding exon 39) of the CDH23 gene. This alteration results from a T to A substitution at nucleotide position 5149, causing the cysteine (C) at amino acid position 1717 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004540600 SCV004780166 uncertain significance CDH23-related disorder 2023-11-22 no assertion criteria provided clinical testing The CDH23 c.5149T>A variant is predicted to result in the amino acid substitution p.Cys1717Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of African descent in gnomAD. A different nucleotide substitution affecting the same amino acid (p.Cys1717Arg) has been reported in a hearing loss cohort (Table S4, Sloan-Heggen et al. 2015. PubMed ID: 26445815). At this time, the clinical significance of the c.5149T>A (p.Cys1717Ser) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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