Submissions for variant NM_000043.6(FAS):c.46G>A (p.Ala16Thr)

gnomAD frequency: 0.03995  dbSNP: rs3218619

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000259335	SCV000365893	benign	Autoimmune lymphoproliferative syndrome type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000259335	SCV000637307	benign	Autoimmune lymphoproliferative syndrome type 1	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000259335	SCV000743697	likely benign	Autoimmune lymphoproliferative syndrome type 1	2016-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001640107	SCV001858926	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 10090885, 24728327)
Breakthrough Genomics, Breakthrough Genomics	RCV001640107	SCV005221885	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121045	SCV000085213	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000259335	SCV000745796	benign	Autoimmune lymphoproliferative syndrome type 1	2016-01-22	no assertion criteria provided	clinical testing