ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys)

gnomAD frequency: 0.00008  dbSNP: rs369740230
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729016 SCV000856649 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV000729016 SCV001205707 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 1716 of the CDH23 protein (p.Gln1716Lys). This variant is present in population databases (rs369740230, 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: 593859). 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 C45"). 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.
GeneDx RCV000729016 SCV001805788 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002535102 SCV003697380 uncertain significance Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing The c.5146C>A (p.Q1716K) alteration is located in exon 40 (coding exon 39) of the CDH23 gene. This alteration results from a C to A substitution at nucleotide position 5146, causing the glutamine (Q) at amino acid position 1716 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830601 SCV002089352 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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