ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)

dbSNP: rs1475718221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230973 SCV001403475 pathogenic Melnick-Fraser syndrome 2019-11-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 10464653, 18220287). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EYA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp478*) in the EYA1 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV003328661 SCV004035772 likely pathogenic not provided 2023-03-14 criteria provided, single submitter clinical testing Nonsense 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); Has not been previously published as pathogenic or benign to our knowledge

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