ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.443dup (p.Thr149fs)

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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 RCV002760998 SCV003018231 pathogenic Spondylocostal dysostosis 3, autosomal recessive 2022-02-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr149Hisfs*2) in the LFNG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LFNG are known to be pathogenic (PMID: 16385447, 29459493). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. For these reasons, this variant has been classified as Pathogenic.

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