ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) (rs397517995)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041773 SCV000065469 likely benign not specified 2011-10-31 criteria provided, single submitter clinical testing Gly4976Gly in exon 68 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Counsyl RCV000666937 SCV000791312 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV001243190 SCV001416330 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing This sequence change affects codon 4976 of the USH2A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the USH2A protein. This variant is present in population databases (rs397517995, ExAC 0.04%). This variant has not been reported in the literature in individuals with USH2A-related disease. ClinVar contains an entry for this variant (Variation ID: 48450). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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