ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1492T>A (p.Leu498Met) (rs115246141)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480707 SCV000570660 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing The L498M variant in the CNGB3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The NHLBI ESP Exome Sequencing Project reports L498M was observed in 52/4406 (1.2%) alleles from individuals of African American background, with one homozygous individual reported, indicating it may be a rare benign variant in this population. The L498M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L498M as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764781 SCV000895925 uncertain significance Achromatopsia 3; Stargardt disease 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000480707 SCV001049189 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276131 SCV001461982 benign Achromatopsia 2019-11-11 no assertion criteria provided clinical testing

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