ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4078A>C (p.Lys1360Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004614915 SCV005105344 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.4078A>C (p.K1360Q) alteration is located in exon 32 (coding exon 31) of the CEP290 gene. This alteration results from a A to C substitution at nucleotide position 4078, causing the lysine (K) at amino acid position 1360 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003777 SCV005630063 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733663 SCV005345621 uncertain significance CEP290-related disorder 2024-02-29 no assertion criteria provided clinical testing The CEP290 c.4078A>C variant is predicted to result in the amino acid substitution p.Lys1360Gln. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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