ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.341A>T (p.Glu114Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003518769 SCV004295329 likely pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-08-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 114 of the FAS protein (p.Glu114Val). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this missense change is associated with altered splicing resulting in an unknown protein product impact (PMID: 22237435). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FAS protein function. This missense change has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 22237435; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.01%).

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