ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7128C>A (p.Asp2376Glu)

dbSNP: rs930082957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761047 SCV001999856 uncertain significance not provided 2024-12-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33111992, 34515852)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699459 SCV005205145 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing Variant summary: CDH23 c.7128C>A (p.Asp2376Glu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249270 control chromosomes. c.7128C>A has been reported in the literature in individuals affected with Usher Syndrome and hearing loss (Brodie_2021, Florentine_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 33111992, 34515852). ClinVar contains an entry for this variant (Variation ID: 1310877). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005052840 SCV005687165 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2025-01-09 criteria provided, single submitter research PM3;PM5;PM2_Supporting;PP3

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