ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1018G>T (p.Ala340Ser)

dbSNP: rs1469173192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557800 SCV000634921 uncertain significance Epileptic encephalopathy 2020-03-07 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on FASN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FASN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 340 of the FASN protein (p.Ala340Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.

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