ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) (rs368458853)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484804 SCV000572699 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing The S2183G variant in the EYS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S2183G variant is observed in 9/2144 (0.4%) alleles from individuals of African background, in the ExAC database (Lek et al., 2016). The S2183G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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 S2183G as a variant of uncertain significance.
Invitae RCV000484804 SCV001033274 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing

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