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

Total submissions: 3

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
Natera, Inc.	RCV001274899	SCV001459452	uncertain significance	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing