ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr)

gnomAD frequency: 0.00001  dbSNP: rs1319955144
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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 RCV001870442 SCV002126412 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 2154 of the CEP290 protein (p.Ala2154Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002545857 SCV003709884 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.6460G>A (p.A2154T) alteration is located in exon 47 (coding exon 46) of the CEP290 gene. This alteration results from a G to A substitution at nucleotide position 6460, causing the alanine (A) at amino acid position 2154 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005311 SCV005630398 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-05-18 criteria provided, single submitter clinical testing

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