ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr)

gnomAD frequency: 0.00010  dbSNP: rs903013824
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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 RCV001340335 SCV001534140 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2022-07-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1037213). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.04%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 99 of the LFNG protein (p.Ala99Thr). 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.
GeneDx RCV003234051 SCV003930752 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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