ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)

gnomAD frequency: 0.00007  dbSNP: rs374964318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241074 SCV001414064 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 985 of the CDH23 protein (p.Val985Leu). This variant also falls at the last nucleotide of exon 25, which is part of the consensus splice site for this exon. This variant is present in population databases (rs374964318, gnomAD 0.004%). 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: 966408). 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 C25"). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Athena Diagnostics RCV001241074 SCV001474987 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480802 SCV002785177 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834140 SCV002089945 uncertain significance Usher syndrome type 1 2020-06-19 no assertion criteria provided clinical testing

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