ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) (rs538435711)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726844 SCV000703587 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000597063 SCV000731485 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing The p.Ser2562Leu variant in CDH23 has been previously reported by our laboratory in one individual with hearing loss; however, this individual had a likely alte rnate explanation for their hearing loss (compound heterozygous likely pathogeni c variants in LARS2). The p.Ser2562Leu variant has also been identified in 0.02% (6/28768) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.or g) and has been reported in ClinVar (Variation ID 498532). Computational predict ion tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser256 2Leu variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Natera, Inc. RCV001276914 SCV001463571 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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