Submissions for variant NM_022124.6(CDH23):c.2171G>A (p.Arg724His)

gnomAD frequency: 0.00030  dbSNP: rs374955091

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150282	SCV000197307	uncertain significance	not specified	2014-07-09	criteria provided, single submitter	clinical testing	The Arg724His variant in CDH23 has not been previously reported in individuals w ith hearing loss, but has been identified in 0.03% (1/3864) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs374955091). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses suggest that the Arg724His var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the Arg724His variant is uncertain
Labcorp Genetics (formerly Invitae), Labcorp	RCV000977887	SCV001125809	likely benign	not provided	2024-08-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000977887	SCV005074113	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing