ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3952G>T (p.Glu1318Ter)

dbSNP: rs1266345519
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578976 SCV000681361 likely pathogenic not provided 2018-01-30 criteria provided, single submitter clinical testing The E1318X variant in the LRPPRC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E1318X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E1318X as a likely pathogenic variant.

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