ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu)

dbSNP: rs374362883
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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 RCV001296030 SCV001484985 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1464 of the CDH23 protein (p.Ala1464Glu). 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: 999963). 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 RCV002541835 SCV003584894 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.4391C>A (p.A1464E) alteration is located in exon 36 (coding exon 35) of the CDH23 gene. This alteration results from a C to A substitution at nucleotide position 4391, causing the alanine (A) at amino acid position 1464 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835394 SCV002087378 uncertain significance Usher syndrome type 1 2020-07-26 no assertion criteria provided clinical testing

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