ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)

gnomAD frequency: 0.00001  dbSNP: rs760059883
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806572 SCV002050510 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002482332 SCV002799629 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980696 SCV005554836 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The c.4736A>T (p.E1579V) alteration is located in exon 36 (coding exon 35) of the CEP290 gene. This alteration results from a A to T substitution at nucleotide position 4736, causing the glutamic acid (E) at amino acid position 1579 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733381 SCV005356773 uncertain significance CEP290-related disorder 2024-08-16 no assertion criteria provided clinical testing The CEP290 c.4736A>T variant is predicted to result in the amino acid substitution p.Glu1579Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0060% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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