ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.2794C>G (p.Pro932Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002287927 SCV002578225 uncertain significance Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2023-03-21 criteria provided, single submitter clinical testing The variant c.2794C>G (p.(Pro932Ala)) in exon 19 of the RERE-gene is not found in the gnomAD database, it affects a moderately conserved nucleotide, a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Pro and Ala. In silico prediction algorithms do not provide a clear statement about pathogenicity of this variant. Inherited from unaffected parent. ACMG criteria used for classification: PM2.

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