ClinVar Miner

Submissions for variant NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468294 SCV004191685 pathogenic Rhizomelic chondrodysplasia punctata type 2 2024-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003720917 SCV004514382 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg163*) in the GNPAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPAT are known to be pathogenic (PMID: 9536089, 21990100). This variant is present in population databases (rs781300183, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with rhizomelic chondrodysplasia punctata (PMID: 33337545). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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