ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)

gnomAD frequency: 0.00001  dbSNP: rs751408783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923403 SCV002190611 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-05-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1566 of the CEP290 protein (p.Ala1566Val). This variant is present in population databases (rs751408783, 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: 1416635). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002484513 SCV002788273 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289228 SCV003961510 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.4697C>T (p.A1566V) alteration is located in exon 35 (coding exon 34) of the CEP290 gene. This alteration results from a C to T substitution at nucleotide position 4697, causing the alanine (A) at amino acid position 1566 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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