Submissions for variant NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)

dbSNP: rs544952984

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156240	SCV000205956	uncertain significance	not specified	2013-12-19	criteria provided, single submitter	clinical testing	The Lys239Asn variant in USH1G has not been previously reported in individuals w ith hearing loss or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. In summary, ad ditional information is needed to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517890	SCV001726487	benign	not provided	2024-11-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001517890	SCV001773720	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	RCV003389459	SCV003927077	likely pathogenic	Usher syndrome	2022-12-31	criteria provided, single submitter	research
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005394532	SCV006059170	likely benign	Usher syndrome type 1G	2020-05-14	criteria provided, single submitter	research