ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) (rs148153079)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176439 SCV000228095 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000176439 SCV001058180 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000728 SCV001157773 uncertain significance not specified 2018-08-21 criteria provided, single submitter clinical testing The USH2A c.4796G>A; p.Gly1599Asp variant (rs148153079), to our knowledge, is not reported in the medical literature. The variant is listed in the ClinVar database (Variation ID: 195788) and in the African population with an overall allele frequency of 0.2% (60/24028 alleles) in the Genome Aggregation Database. The glycine at codon 1599 is weakly conserved and computational analyses (SIFT: Deleterious, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Considering available information, the clinical significance of this variant cannot be determined. Pathogenic USH2A variants are causative for autosomal recessive Usher syndrome (MIM: 276901) or retinitis pigmentosa (MIM: 613809).
GeneDx RCV000176439 SCV001771068 uncertain significance not provided 2021-08-07 criteria provided, single submitter clinical testing Observed in a family with hearing loss in a published thesis who harbored other variants in USH2A, as well as a homozygous variant in OTOF considered to be causative by the authors (Lebeko et al., 2019); 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: 33528103)
Natera, Inc. RCV001273051 SCV001455637 uncertain significance Usher syndrome, type 2A 2019-11-11 no assertion criteria provided clinical testing

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