ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp)

dbSNP: rs959651787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520381 SCV000621249 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing The G1327D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G1327D variant is not observed in large population cohorts (Lek et al., 2016). The G1327D 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Natera, Inc. RCV001834706 SCV002094241 uncertain significance Leber congenital amaurosis 2020-08-03 no assertion criteria provided clinical testing

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