ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8464G>A (p.Asp2822Asn)

gnomAD frequency: 0.00002  dbSNP: rs1305925095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038983 SCV001202488 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2822 of the CDH23 protein (p.Asp2822Asn). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 837606). 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 C0"). 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 RCV004031086 SCV004922017 uncertain significance Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing The c.8464G>A (p.D2822N) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 8464, causing the aspartic acid (D) at amino acid position 2822 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832393 SCV002091911 uncertain significance Usher syndrome type 1 2020-12-27 no assertion criteria provided clinical testing

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