ClinVar Miner

Submissions for variant NM_001079878.2(CNGA3):c.1531G>A (p.Val511Met) (rs104893619)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000352391 SCV000329302 pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing The V529M pathogenic variant in the CNGA3 gene has been reported previously in multiple individuals with achromatopsia in the homozygous state, as well as in the heterozygous state in the presence of a second CNGA3 variant (Kohl et al., 1998; Nishiguchi et al., 2005; Zelinger et al., 2010). The V529M variant was not observed in the homozygous state or at any significant frequency in approximately 6500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The V529M variant is a conservative amino acid substitution, which occurs within the cGMP-binding domain at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V529M as a pathogenic variant.
OMIM RCV000010088 SCV000030309 pathogenic Achromatopsia 2 2010-09-01 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002968 SCV001161016 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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