ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6968del (p.Pro2323fs)

dbSNP: rs397517350
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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 RCV000039259 SCV000062943 pathogenic Rare genetic deafness 2012-06-26 criteria provided, single submitter clinical testing The Pro2323fs variant in CDH23 has been reported in one individual with Usher sy ndrome and was absent from 96 control chromosomes (Astuto 2002). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at po sition 2323 and lead to a premature termination codon 50 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http:// pcpgm.partners.org/LMM).
Baylor Genetics RCV003473283 SCV004212313 pathogenic Pituitary adenoma 5, multiple types 2024-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831673 SCV002093267 pathogenic Usher syndrome type 1 2020-10-08 no assertion criteria provided clinical testing

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