ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe)

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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 RCV003615348 SCV004535121 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2023-07-28 criteria provided, single submitter clinical testing 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. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 305 of the LFNG protein (p.Leu305Phe). This variant is present in population databases (rs144930406, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of spondylocostal dysostosis (Invitae). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LFNG protein function.

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