ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1952T>C (p.Met651Thr)

gnomAD frequency: 0.00001  dbSNP: rs772165172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338066 SCV001531702 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-11-01 criteria provided, single submitter clinical testing 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. 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 expected to disrupt CEP290 protein function. ClinVar contains an entry for this variant (Variation ID: 1035229). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 651 of the CEP290 protein (p.Met651Thr).
Natera, Inc. RCV001831044 SCV002094312 uncertain significance Leber congenital amaurosis 2021-03-05 no assertion criteria provided clinical testing

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