Submissions for variant NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)

gnomAD frequency: 0.00028  dbSNP: rs372768607

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155242	SCV000204928	uncertain significance	not specified	2014-04-11	criteria provided, single submitter	clinical testing	The Arg1832Gln variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 0.07% (3/4216) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/). Computational analyses (biochemical amino acid properties, conservation , AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the Arg1832Gln variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001241068	SCV001414058	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001241068	SCV002499909	uncertain significance	not provided	2024-11-01	criteria provided, single submitter	clinical testing	Reported in association with Usher syndrome in published literature (PMID: 31816670); however, no other variant or clinical information was provided; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31816670)
Division of Human Genetics, Children's Hospital of Philadelphia	RCV000477766	SCV000536771	uncertain significance	Autosomal dominant nonsyndromic hearing loss 11	2015-09-21	no assertion criteria provided	research
Natera, Inc.	RCV001826836	SCV002088507	uncertain significance	Usher syndrome type 1B	2019-11-11	no assertion criteria provided	clinical testing