ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)

gnomAD frequency: 0.00027  dbSNP: rs111033262
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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 RCV000041925 SCV000065621 likely benign not specified 2016-02-18 criteria provided, single submitter clinical testing p.Phe2786Ser in exon 42 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (59/16506) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs111033262).
Invitae RCV000937134 SCV001082909 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000937134 SCV001765443 likely benign not provided 2018-09-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 20507924, 25262649)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041925 SCV002104146 benign not specified 2022-02-26 criteria provided, single submitter clinical testing Variant summary: USH2A c.8357T>C (p.Phe2786Ser) results in a non-conservative amino acid change located in the Fibronectin type III domain (IPR003961) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00083 in 251116 control chromosomes in the gnomAD database, including 2 homozygotes. Although reported in the literature, to our knowledge, no penetrant association of c.8357T>C in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Genome-Nilou Lab RCV003450900 SCV004182812 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276968 SCV004182813 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003934974 SCV004755463 likely benign USH2A-related condition 2020-12-07 criteria provided, single submitter 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).
Natera, Inc. RCV001276968 SCV001463661 likely benign Usher syndrome type 2A 2020-02-13 no assertion criteria provided clinical testing

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