ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.264C>A (p.Tyr88Ter) (rs1057520771)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419914 SCV000517376 pathogenic not provided 2015-06-02 criteria provided, single submitter clinical testing The Y88X nonsense variant in the FKRP gene is predicted to cause loss of normal protein function through protein truncation as the last 408 amino acids of the protein are lost. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. Therefore, Y88X is considered to be a pathogenic variant.

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