ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.266G>T (p.Gly89Val)

gnomAD frequency: 0.00006  dbSNP: rs938320862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054153 SCV001218455 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 89 of the LFNG protein (p.Gly89Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 (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.
Ambry Genetics RCV003160428 SCV003865929 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.266G>T (p.G89V) alteration is located in exon 1 (coding exon 1) of the LFNG gene. This alteration results from a G to T substitution at nucleotide position 266, causing the glycine (G) at amino acid position 89 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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