ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6229G>A (p.Asp2077Asn)

gnomAD frequency: 0.00024  dbSNP: rs141935205
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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 RCV000547088 SCV000635020 uncertain significance Epileptic encephalopathy 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2077 of the FASN protein (p.Asp2077Asn). This variant is present in population databases (rs141935205, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with developmental disorders (PMID: 33057194, 35982159). ClinVar contains an entry for this variant (Variation ID: 462093). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004023887 SCV003735678 uncertain significance not specified 2024-12-12 criteria provided, single submitter clinical testing The c.6229G>A (p.D2077N) alteration is located in exon 37 (coding exon 36) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 6229, causing the aspartic acid (D) at amino acid position 2077 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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