ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)

gnomAD frequency: 0.00001  dbSNP: rs148173636
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242635 SCV001415737 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2314 of the CEP290 protein (p.Asn2314Ser). This variant is present in population databases (rs148173636, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 967666). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002284476 SCV002574267 uncertain significance not provided 2022-03-15 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
Fulgent Genetics, Fulgent Genetics RCV002480812 SCV002781495 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-09-24 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887957 SCV004707632 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001835133 SCV002091826 uncertain significance Leber congenital amaurosis 2020-03-15 no assertion criteria provided clinical testing

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