ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)

gnomAD frequency: 0.00010  dbSNP: rs200830750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035058 SCV001198367 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-17 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 1258 of the CEP290 protein (p.Asn1258Ser). This variant is present in population databases (rs200830750, gnomAD 0.009%). 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: 834384). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP290 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002505556 SCV002817063 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-27 criteria provided, single submitter clinical testing
New York Genome Center RCV003227897 SCV003925375 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 2022-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030946 SCV004926225 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.3773A>G (p.N1258S) alteration is located in exon 31 (coding exon 30) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 3773, causing the asparagine (N) at amino acid position 1258 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836069 SCV002094251 uncertain significance Leber congenital amaurosis 2020-02-26 no assertion criteria provided clinical testing

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