Submissions for variant NM_206933.4(USH2A):c.848+5G>C

gnomAD frequency: 0.00641  dbSNP: rs74329863

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041928	SCV000065624	benign	not specified	2011-02-01	criteria provided, single submitter	clinical testing	848+5G>C in intron 5 of USH2A: This variant is not expected to have clinical sig nificance because it has been identified with a frequency of 3.4% in the East As ian population (208 chromosomes) and a frequency of 2.5% in the West African pop ulation (118 chromosomes) (rs74329863). In addition, this variant has been ident ified in 2/15 (13/3%) of Asian individuals tested by our laboratory, one of whic h is homozygous for a pathogenic MYO7A variant. Furthermore, the 848+5G>C varian t is located in the 5' splice region but does not affect the invariant +1 and +2 positions.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953434	SCV001100007	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101204	SCV001257797	benign	Usher syndrome type 2A	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001101205	SCV001257798	benign	Retinitis pigmentosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000953434	SCV001940504	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29625443)
Fulgent Genetics, Fulgent Genetics	RCV002490583	SCV002798676	benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-04-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445130	SCV004172216	benign	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001101204	SCV004172217	benign	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000953434	SCV004699626	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000953434	SCV005280617	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001101204	SCV001457328	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing