ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5481G>T (p.Gly1827=)

gnomAD frequency: 0.00005  dbSNP: rs375545532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155051 SCV000204735 likely benign not specified 2015-07-31 criteria provided, single submitter clinical testing p.Gly1827Gly in exon 42 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 7/66164 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs375545532).
GeneDx RCV001596979 SCV001830281 uncertain significance not provided 2020-09-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV001596979 SCV003453043 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 1827 of the CDH23 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDH23 protein. This variant is present in population databases (rs375545532, ExAC 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: 178307). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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