ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)

gnomAD frequency: 0.00017  dbSNP: rs188093326
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156040 SCV000205753 likely benign not specified 2013-11-08 criteria provided, single submitter clinical testing Gly3325Gly in Exon 51 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid, it is not found in a splice consensus sequence, and it was identified in 0.8% (3/394) Chinese chromosomes by the 1000 Genomes Project (dbSNP rs188093326)
Labcorp Genetics (formerly Invitae), Labcorp RCV000939969 SCV001085825 benign not provided 2024-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000939969 SCV001856918 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453187 SCV004182622 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453186 SCV004182623 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888603 SCV004707897 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV005286033 SCV005956371 likely benign Inborn genetic diseases 2025-01-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004544446 SCV004760831 likely benign USH2A-related disorder 2019-12-18 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).

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