ClinVar Miner

Submissions for variant NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)

dbSNP: rs2091986259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV001089479 SCV000998822 likely pathogenic Congenital ocular coloboma 2019-10-18 criteria provided, single submitter clinical testing This heterozygous in-frame deletion of 21 amino acids (p.Asn394_Gly415del) reaches the Frizzled domain of the FZD5 protein. The core functional domain is deprived of 22 amino acids highly conserved. 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.
OMIM RCV003882735 SCV004697474 pathogenic Microphthalmia/coloboma 11 2024-09-27 no assertion criteria provided literature only

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