ClinVar Miner

Submissions for variant NM_012193.4(FZD4):c.40_49del (p.Pro14fs)

dbSNP: rs1555086007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857294 SCV002144830 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 441133). This variant is also known as p.P14fs. This premature translational stop signal has been observed in individual(s) with familial exudative vitreoretinopathy (PMID: 27668459, 30452590). This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Pro14Serfs*44) in the FZD4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FZD4 are known to be pathogenic (PMID: 25711638, 26244290).
GeneDx RCV001857294 SCV005078681 pathogenic not provided 2023-12-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.39-49delCCCGGGGGC and P14fsX5; This variant is associated with the following publications: (PMID: 32884843, 34860240, 27668459, 30452590, 35876299, 20938005)
GenomeConnect, ClinGen RCV000509233 SCV000607297 not provided Familial exudative vitreoretinopathy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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