ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5062G>A (p.Ala1688Thr)

gnomAD frequency: 0.00017  dbSNP: rs368428251
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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 RCV000637125 SCV000758573 uncertain significance Epileptic encephalopathy 2024-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1688 of the FASN protein (p.Ala1688Thr). This variant is present in population databases (rs368428251, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 531015). 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 disruptive. 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 RCV004025504 SCV004869712 uncertain significance not specified 2023-10-02 criteria provided, single submitter clinical testing The c.5062G>A (p.A1688T) alteration is located in exon 29 (coding exon 28) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 5062, causing the alanine (A) at amino acid position 1688 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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