ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)

gnomAD frequency: 0.00009  dbSNP: rs200726531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498957 SCV000590069 uncertain significance not provided 2018-11-15 criteria provided, single submitter clinical testing The R3205H variant in the USH2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R3205H variant is observed in 5/16510 (0.03%) alleles from individuals of South Asian background, and in 5/66620 (0.0075%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The R3205H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R3205H as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000498957 SCV001413702 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276958 SCV001463651 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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