ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.1389G>A (p.Lys463=)

dbSNP: rs1359060727
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373029 SCV001569727 uncertain significance not provided 2020-10-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEP250-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 463 of the CEP250 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEP250 protein.

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