ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

gnomAD frequency: 0.00010  dbSNP: rs375817905
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862577 SCV001003098 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
New York Genome Center RCV003227872 SCV003925430 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 2022-04-06 criteria provided, single submitter clinical testing
GeneDx RCV003313158 SCV004012413 uncertain significance not provided 2023-07-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003938223 SCV004751133 likely benign CEP290-related condition 2023-08-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001273060 SCV001455647 uncertain significance Leber congenital amaurosis 2020-01-24 no assertion criteria provided clinical testing

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