ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.994A>T (p.Arg332Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003547170 SCV004253284 pathogenic not provided 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg332*) in the LRPPRC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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