ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) (rs863224052)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200227 SCV000251662 pathogenic not provided 2013-12-27 criteria provided, single submitter clinical testing p.Tyr1321Stop (TAC>TAA): c.3963 C>A in exon 36 of the LRPPRC gene (NM_133259.3). The Y1321X nonsense mutation in the LRPPRC gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is expected to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000200227 SCV001502292 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing

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