ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.788G>T (p.Arg263Leu)

dbSNP: rs201864741
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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 RCV002032150 SCV002315081 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2022-10-05 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1525023). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 263 of the LFNG protein (p.Arg263Leu).

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