ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)

gnomAD frequency: 0.00001  dbSNP: rs397517982
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Total submissions: 4
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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 RCV000041729 SCV000065425 likely pathogenic Rare genetic deafness 2011-04-15 criteria provided, single submitter clinical testing The Gly4247Arg variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is highly conserved across spe cies and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Gl y4247Arg variant may impact the protein. In addition, this variant was identifed in trans with another pathogenic variant in USH2A. In summary, this data sugges ts that this variant is likely to be pathogenic.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389451 SCV003927146 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Genome-Nilou Lab RCV003450768 SCV004181950 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887890 SCV004707258 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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