ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.635G>A (p.Arg212Gln)

gnomAD frequency: 0.00003  dbSNP: rs760610052
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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 RCV001888356 SCV002139030 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2021-09-15 criteria provided, single submitter clinical testing 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 tolerated. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with LFNG-related conditions. This variant is present in population databases (rs760610052, ExAC 0.04%). This sequence change replaces arginine with glutamine at codon 212 of the LFNG protein (p.Arg212Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.

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