ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter)

dbSNP: rs1397549896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953829 SCV002246409 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu2103*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 12075507). ClinVar contains an entry for this variant (Variation ID: 1457569).
Baylor Genetics RCV003475236 SCV004210583 pathogenic Pituitary adenoma 5, multiple types 2023-10-28 criteria provided, single submitter clinical testing

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