ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) (rs368381520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150306 SCV000197381 uncertain significance not specified 2018-07-25 criteria provided, single submitter clinical testing The p.Ala2031Thr variant in CDH23 has been previously reported by our laboratory in one individual with severe sensorineural hearing loss; however, the hearing loss was likely due to a homozygous pathogenic variant in a different gene in th is individual. It has been identified in 0.01% (15/110508) of European chromosom es by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs368381520). This variant has also been reported in ClinVar (Variation I D 162926). Computational prediction tools and conservation analysis suggest that the p.Ala2031Thr variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signific ance of the p.Ala2031Thr variant is uncertain. ACMG/AMP Criteria applied: PP3, P M2_Supporting.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000150306 SCV000602957 uncertain significance not specified 2017-02-24 criteria provided, single submitter clinical testing

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