ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.-8_2del (p.Met1fs)

dbSNP: rs2040644607
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058761 SCV001223352 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2019-03-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the CEP290 mRNA. The next in-frame methionine is located at codon 11. Disruption of the initiator codon has been observed in individuals with Leber congenital amaurosis (PMID: 17345604, 17617513) and Senior-Løken syndrome (PMID: 21866095). For these reasons, this variant has been classified as Pathogenic. If the downstream in-frame methionine at codon 11 is utilized for translation initiation, this variant would be expected to disrupt the p.Trp7 amino acid residue in CEP290. Other variant(s) that disrupt this residue (p.Trp7Cys) have been determined to be pathogenic (PMID: 16682970, 27422788). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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