ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.779A>T (p.Asp260Val)

dbSNP: rs28929498
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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 RCV002513090 SCV003439631 pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-06-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 16504). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp260 amino acid residue in FAS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18223337, 21490157; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects FAS function (PMID: 20935634). 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) performed at Invitae indicates that this missense variant is expected to disrupt FAS protein function. This missense change has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 9821419). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 260 of the FAS protein (p.Asp260Val).
OMIM RCV000017968 SCV000038247 pathogenic Autoimmune lymphoproliferative syndrome, type 1a 1998-11-01 no assertion criteria provided literature only

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