Submissions for variant NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)

gnomAD frequency: 0.00014  dbSNP: rs55674815

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000729975	SCV000252543	uncertain significance	not provided	2024-09-03	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26435059)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000196981	SCV000272917	uncertain significance	not specified	2015-06-23	criteria provided, single submitter	clinical testing	The p.Lys800Glu variant in WFS1 has not been previously reported in individuals with hearing loss, but has been identified in 10/63794 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs5 5674815). Although this variant has been seen in the general population, its fre quency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analysis do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the p.Lys800Gl u variant is uncertain.
Eurofins Ntd Llc (ga)	RCV000729975	SCV000857678	uncertain significance	not provided	2017-11-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000729975	SCV001154170	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000729975	SCV002474993	likely benign	not provided	2024-10-18	criteria provided, single submitter	clinical testing