ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)

gnomAD frequency: 0.00011  dbSNP: rs190037839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046914 SCV001210835 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-17 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 227 of the CRB1 protein (p.Glu227Lys). This variant is present in population databases (rs190037839, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 844140). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CRB1 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.
Natera, Inc. RCV001275644 SCV001460935 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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