ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) (rs148475933)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402629 SCV000483131 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290496 SCV000483132 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347839 SCV000483133 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405901 SCV000483134 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000613082 SCV000710992 uncertain significance not specified 2017-09-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg3328Hi s variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 29/272450 of total chromosome s including 10/34302 of Latino chromosomes by the Genome Aggregation Database (g nomAD, http://gnomad.broadinstitute.org; dbSNP rs148475933). Although this varia nt has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Arg3328His variant is uncertain. ACMG /AMP Criteria applied: PM2 supporting (Richards 2015).

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