ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala)

gnomAD frequency: 0.00004  dbSNP: rs730880300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256019 SCV000321523 likely pathogenic not provided 2017-02-23 criteria provided, single submitter clinical testing The E643A variant in the CRB2 gene has been reported previously with another CRB2 variant in several individuals with features of CRB2-related disorder (Slavotinek et al., 2015; Lamont et al., 2016). The E643A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E643A 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function.
Invitae RCV000256019 SCV001508207 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
OMIM RCV000157661 SCV000207612 pathogenic Ventriculomegaly-cystic kidney disease 2015-01-08 no assertion criteria provided literature only

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