Submissions for variant NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly)

gnomAD frequency: 0.00009  dbSNP: rs200041829

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219098	SCV000272103	uncertain significance	not specified	2015-11-25	criteria provided, single submitter	clinical testing	The p.Arg1935Gly variant in MYO15A has not been previously reported in individua ls with hearing loss. This variant has been identified in 10/62318 European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs200041829); however, this frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong evidence for or against an impact to the protein. In summary, th e clinical significance of the p.Arg1935Gly variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517575	SCV003492518	benign	not provided	2024-03-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955274	SCV004781259	likely benign	MYO15A-related disorder	2023-06-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).