ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)

dbSNP: rs1007094417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067630 SCV001232699 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-08-09 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt CRB1 protein function. ClinVar contains an entry for this variant (Variation ID: 861171). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1262 of the CRB1 protein (p.Glu1262Lys).
Natera, Inc. RCV001827441 SCV002090209 uncertain significance Leber congenital amaurosis 2020-08-04 no assertion criteria provided clinical testing

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