ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9110G>A (p.Arg3037His) (rs533700989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766324 SCV000581975 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The R3037H variant in the USH2A gene has not been reported previously as a germline pathogenic variant, nor as a benign variant, to our knowledge. The R3037H variant is observed in 109/16492 (0.661%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). The R3037H 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 is probably damaging to the protein structure/function. We interpret R3037H as a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218151 SCV000269952 benign not specified 2015-02-20 criteria provided, single submitter clinical testing p.Arg3037His in exon 46 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.7% (109/16492) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs533700989), and due to a lack of conservation across species, incl uding mammals. Of note, 10 have a histidine (His) at this position despite high nearby amino acid conservation.

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