ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.2311C>A (p.Leu771Met)

gnomAD frequency: 0.00001  dbSNP: rs202206277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540466 SCV000634948 uncertain significance Epileptic encephalopathy 2019-05-30 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FASN-related disease. This sequence change replaces leucine with methionine at codon 771 of the FASN protein (p.Leu771Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine.

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