Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |