ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3217G>T (p.Ala1073Ser)

gnomAD frequency: 0.00001  dbSNP: rs369190857
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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 RCV002695276 SCV002998082 uncertain significance Epileptic encephalopathy 2023-04-15 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1073 of the FASN protein (p.Ala1073Ser). This variant is present in population databases (rs369190857, gnomAD 0.004%). 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: 1952364). 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 RCV004066898 SCV003756802 uncertain significance not specified 2022-02-24 criteria provided, single submitter clinical testing The c.3217G>T (p.A1073S) alteration is located in exon 20 (coding exon 19) of the FASN gene. This alteration results from a G to T substitution at nucleotide position 3217, causing the alanine (A) at amino acid position 1073 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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