ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.557A>G (p.Asp186Gly)

gnomAD frequency: 0.00003  dbSNP: rs753021502
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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 RCV001338670 SCV001532356 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 186 of the LFNG protein (p.Asp186Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs753021502, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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