ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1439G>A (p.Arg480Gln) (rs77277189)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766832 SCV000618596 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing The R480Q variant in the CNGB3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R480Q variant is observed in 68/10,406 (0.65%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The R480Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R480Q as a variant of uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000522020 SCV000860291 likely benign not specified 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV000766832 SCV001033328 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276132 SCV001461983 likely benign Achromatopsia 2020-06-23 no assertion criteria provided clinical testing

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