ClinVar Miner

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

gnomAD frequency: 0.00133  dbSNP: rs368458853
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Total submissions: 4
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000484804 SCV001033274 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619303 SCV005112950 uncertain significance Inborn genetic diseases 2024-06-10 criteria provided, single submitter clinical testing The c.6547A>G (p.S2183G) alteration is located in exon 32 (coding exon 29) of the EYS gene. This alteration results from a A to G substitution at nucleotide position 6547, causing the serine (S) at amino acid position 2183 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272974 SCV001455488 uncertain significance Retinitis pigmentosa 25 2019-10-28 no assertion criteria provided clinical testing

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