ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.1817G>A (p.Arg606Gln)

gnomAD frequency: 0.00042  dbSNP: rs149901147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112562 SCV002400536 likely benign not provided 2022-07-12 criteria provided, single submitter clinical testing
GeneDx RCV002112562 SCV005388107 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004741231 SCV005341402 uncertain significance CRB2-related disorder 2024-05-11 no assertion criteria provided clinical testing The CRB2 c.1817G>A variant is predicted to result in the amino acid substitution p.Arg606Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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