ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)

gnomAD frequency: 0.00004  dbSNP: rs774144082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051657 SCV001215825 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1264 of the CEP290 protein (p.Arg1264His). This variant is present in population databases (rs774144082, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 848000). 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 CEP290 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280155 SCV002568314 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing PM2, BP4
Fulgent Genetics, Fulgent Genetics RCV002497407 SCV002775259 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836090 SCV002094248 uncertain significance Leber congenital amaurosis 2020-02-17 no assertion criteria provided clinical testing

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