ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)

gnomAD frequency: 0.00010  dbSNP: rs371582975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225844 SCV000290914 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763863 SCV000894797 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
PreventionGenetics, part of Exact Sciences RCV004529415 SCV004107298 uncertain significance CEP290-related disorder 2024-02-14 criteria provided, single submitter clinical testing The CEP290 c.4938A>G variant is not predicted to result in an amino acid change (p.=). Available splicing prediction programs indicate that this variant may lead to the creation of a novel splice donor site (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001273065 SCV001455652 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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