Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000801769 | SCV000941563 | uncertain significance | Epileptic encephalopathy | 2018-11-30 | criteria provided, single submitter | clinical testing | 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. 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 1985 of the FASN protein (p.Pro1985Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |
Ambry Genetics | RCV004028074 | SCV004869719 | uncertain significance | not specified | 2023-10-03 | criteria provided, single submitter | clinical testing | The c.5953C>T (p.P1985S) alteration is located in exon 35 (coding exon 34) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 5953, causing the proline (P) at amino acid position 1985 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |