ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)

dbSNP: rs2129000663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381440 SCV001579823 pathogenic Melnick-Fraser syndrome 2020-06-16 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.Gln213*) in the EYA1 gene. It is expected to result in an absent or disrupted protein product.
MGZ Medical Genetics Center RCV002290700 SCV002581108 likely pathogenic Branchiootic syndrome 1 2022-07-21 criteria provided, single submitter clinical testing

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