ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.661G>A (p.Glu221Lys)

gnomAD frequency: 0.00022  dbSNP: rs368631180
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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 RCV001225660 SCV001397945 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 221 of the CRB2 protein (p.Glu221Lys). This variant is present in population databases (rs368631180, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CRB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 953375). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRB2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001225660 SCV002576853 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001225660 SCV005410802 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing PP3

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