ClinVar Miner

Submissions for variant NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)

dbSNP: rs2091987023
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV001089478 SCV000998821 likely pathogenic Congenital ocular coloboma 2019-10-18 criteria provided, single submitter clinical testing This sequence change alteres a highly conserved amino acid (p.His361delinsArgAsn) in a major functional domain (frizzled domain) of the FZD5 gene. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FZD5-related disease. The loss of the Histidine with the insertion of two novel amino acids Arginine and Asparagine is predicted to be damaging on splicing by in silico analyses (Human Splicing Finder, GeneSplicer, ESEfinder).

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