ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr) (rs138190453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481403 SCV000570992 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing The C308Y variant in the SPATA7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C308Y variant is observed in 72/10356 (0.70%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The C308Y 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 across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret C308Y as a variant of uncertain significance.
Invitae RCV001085427 SCV001113898 likely benign Leber congenital amaurosis 3 2019-12-31 criteria provided, single submitter clinical testing

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