ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.822-19G>A

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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 RCV002706403 SCV003000964 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2022-05-12 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the LFNG gene. It does not directly change the encoded amino acid sequence of the LFNG protein. This variant is present in population databases (rs778857629, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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