ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.990G>A (p.Met330Ile)

gnomAD frequency: 0.00001  dbSNP: rs1388365600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817529 SCV002068469 uncertain significance not specified 2018-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040968 SCV004926255 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.990G>A (p.M330I) alteration is located in exon 12 (coding exon 11) of the CEP290 gene. This alteration results from a G to A substitution at nucleotide position 990, causing the methionine (M) at amino acid position 330 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005289 SCV005632014 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-02-22 criteria provided, single submitter clinical testing

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