ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter)

dbSNP: rs397517337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005042114 SCV005681751 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-05-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039207 SCV000062891 pathogenic Rare genetic deafness 2012-02-20 no assertion criteria provided clinical testing The Gln1758X variant in CDH23 has not been reported in the literature. The Gln17 58X variant leads to a premature stop codon at position 1758, which is predicted to lead to a truncated or absent protein. Therefore, this variant meets our cri teria to be classified as pathogenic.

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