ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5266G>A (p.Glu1756Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208266 SCV005849203 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.5266G>A(p.Glu1756Lys) variant in CDH23 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Glu at position 1756 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Glu1756Lys in CDH23 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Damaging, SIFT - Tolerated, and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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