ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9526G>A (p.Glu3176Lys)

gnomAD frequency: 0.00003  dbSNP: rs771915739
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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 RCV001364431 SCV001560580 uncertain significance not provided 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3176 of the CDH23 protein (p.Glu3176Lys). This variant is present in population databases (rs771915739, gnomAD 0.009%). 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: 1055713). 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 RCV002547820 SCV003539433 uncertain significance Inborn genetic diseases 2022-11-03 criteria provided, single submitter clinical testing The c.9526G>A (p.E3176K) alteration is located in exon 68 (coding exon 67) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 9526, causing the glutamic acid (E) at amino acid position 3176 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826030 SCV002095249 uncertain significance Usher syndrome type 1 2020-06-15 no assertion criteria provided clinical testing

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