ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) (rs727502936)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000787977 SCV000927000 uncertain significance Usher syndrome 2019-04-29 reviewed by expert panel curation The c.9566G>A (p.Arg3189Gln) variant in CDH23 has been identified in 1 heterozygous patient with sensorineural hearing loss (Partners LMM internal data, SCV000197429.4). The allele frequency of the variant is 0.023% (7/30608) of South Asian chromosomes by gnomAD, which is a low enough frequency to apply PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : PM2_Supporting.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150330 SCV000197429 uncertain significance not specified 2014-03-15 criteria provided, single submitter clinical testing The Arg3189Gln variant in CDH23 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant.

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