ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu)

gnomAD frequency: 0.00009  dbSNP: rs376453794
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594374 SCV000701874 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594374 SCV001216221 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2177 of the CDH23 protein (p.Pro2177Leu). This variant is present in population databases (rs376453794, gnomAD 0.02%). 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: 497395). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. 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.
Ambry Genetics RCV002530978 SCV003534557 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.6530C>T (p.P2177L) alteration is located in exon 48 (coding exon 47) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 6530, causing the proline (P) at amino acid position 2177 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000594374 SCV005419983 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001829636 SCV002095075 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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