ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8785G>A (p.Val2929Met)

gnomAD frequency: 0.00003  dbSNP: rs781604742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001871557 SCV002127305 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2929 of the CDH23 protein (p.Val2929Met). This variant is present in population databases (rs781604742, 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: 990958). 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 RCV002541700 SCV003725306 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.8785G>A (p.V2929M) alteration is located in exon 61 (coding exon 60) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 8785, causing the valine (V) at amino acid position 2929 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279078 SCV001466139 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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