ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.4304A>T (p.His1435Leu)

dbSNP: rs1553154130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521494 SCV000621198 likely pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing The H1435L variant in the RERE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H1435L variant is not observed in large population cohorts (Lek et al., 2016). The H1435L 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H1435L as a likely pathogenic variant.
Daryl Scott Lab, Baylor College of Medicine RCV000681469 SCV000808918 likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2017-09-12 criteria provided, single submitter clinical testing

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