ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)

dbSNP: rs1017249180
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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 RCV001041693 SCV001205322 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 2163 of the CEP290 protein (p.Met2163Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. 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 (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.
Ambry Genetics RCV004031258 SCV004926247 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.6489G>A (p.M2163I) 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 6489, causing the methionine (M) at amino acid position 2163 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827250 SCV002091841 uncertain significance Leber congenital amaurosis 2020-11-30 no assertion criteria provided clinical testing

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