ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6631A>G (p.Ile2211Val)

gnomAD frequency: 0.00001  dbSNP: rs371363040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002735231 SCV003003058 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2211 of the CDH23 protein (p.Ile2211Val). This variant is present in population databases (rs371363040, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). 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 RCV002710759 SCV003577827 uncertain significance Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing The c.6631A>G (p.I2211V) alteration is located in exon 48 (coding exon 47) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 6631, causing the isoleucine (I) at amino acid position 2211 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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