ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8689G>A (p.Asp2897Asn)

gnomAD frequency: 0.00003  dbSNP: rs757310468
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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 RCV001936973 SCV002218843 uncertain significance not provided 2021-12-05 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 2897 of the CDH23 protein (p.Asp2897Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: "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 RCV004612026 SCV005107702 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.8689G>A (p.D2897N) alteration is located in exon 60 (coding exon 59) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 8689, causing the aspartic acid (D) at amino acid position 2897 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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