ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.2816A>G (p.Glu939Gly)

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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 RCV005174260 SCV005802264 uncertain significance Epileptic encephalopathy 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 939 of the FASN protein (p.Glu939Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FASN-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV005338579 SCV006003910 uncertain significance not specified 2025-03-11 criteria provided, single submitter clinical testing The c.2816A>G (p.E939G) alteration is located in exon 18 (coding exon 17) of the FASN gene. This alteration results from a A to G substitution at nucleotide position 2816, causing the glutamic acid (E) at amino acid position 939 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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