ClinVar Miner

Submissions for variant NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)

gnomAD frequency: 0.00002  dbSNP: rs140470472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536895 SCV002963625 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg24*) in the MLPH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLPH are known to be pathogenic (PMID: 22711375, 32864751). This variant is present in population databases (rs140470472, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Griscelli syndrome (PMID: 32864751). ClinVar contains an entry for this variant (Variation ID: 636328). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000788109 SCV003821628 pathogenic Griscelli syndrome type 3 2022-06-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Ulm RCV000788109 SCV000927103 pathogenic Griscelli syndrome type 3 2018-01-08 no assertion criteria provided research

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