ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.143del (p.Leu48fs)

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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 RCV002999068 SCV003294157 pathogenic not provided 2022-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu48Trpfs*9) in the PRDM5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRDM5 are known to be pathogenic (PMID: 21664999, 26395458). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRDM5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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