ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7807G>A (p.Asp2603Asn)

dbSNP: rs780640943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296134 SCV001485090 uncertain significance not provided 2022-08-16 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 2603 of the CDH23 protein (p.Asp2603Asn). 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 missense change has been observed in individual(s) with deafness (Invitae). ClinVar contains an entry for this variant (Variation ID: 1000052). 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.
AiLife Diagnostics, AiLife Diagnostics RCV001296134 SCV002501565 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978250 SCV005557986 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.7807G>A (p.D2603N) alteration is located in exon 55 (coding exon 54) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 7807, causing the aspartic acid (D) at amino acid position 2603 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830133 SCV002087647 uncertain significance Usher syndrome type 1 2021-02-01 no assertion criteria provided clinical testing

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