ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)

dbSNP: rs774559018
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378790 SCV001576446 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This variant, c.7990_7992del, results in the deletion of 1 amino acid(s) of the CDH23 protein (p.Phe2664del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774559018, gnomAD 0.003%). This variant has been observed in individual(s) with nonsyndromic deafness (PMID: 21940737). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 996634). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473848 SCV004212279 likely pathogenic Pituitary adenoma 5, multiple types 2024-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040132 SCV005677024 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-04-26 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291221 SCV001479646 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research
Natera, Inc. RCV001836256 SCV002088762 likely pathogenic Usher syndrome type 1 2020-03-24 no assertion criteria provided clinical testing

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