ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

gnomAD frequency: 0.00011  dbSNP: rs371833544
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000417476 SCV000511674 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000765111 SCV000896333 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001245037 SCV001418298 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-17 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 2210 of the CEP290 protein (p.Arg2210His). This variant is present in population databases (rs371833544, gnomAD 0.02%). 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: 377291). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
CeGaT Center for Human Genetics Tuebingen RCV000417476 SCV004135535 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CEP290: BP4
Dept Of Ophthalmology, Nagoya University RCV003889881 SCV004707640 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001276484 SCV001462863 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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