ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)

dbSNP: rs1553354962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627607 SCV000748607 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The c.1248dupA pathogenic variant in the PREPL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1248dupA variant causes a frameshift starting with codon Tyrosine 417, changes this amino acid to a Isoleucine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Tyr417IlefsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1248dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1248dupA as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253360 SCV001429032 likely pathogenic Myasthenic syndrome, congenital, 22 2018-11-16 criteria provided, single submitter clinical testing This variant was identified as homozygous

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