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: 4
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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
Invitae RCV000594374 SCV001216221 uncertain significance not provided 2024-01-26 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). 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 with a negative predictive value of 95%. 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.
Natera, Inc. RCV001829636 SCV002095075 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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