ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.280T>G (p.Leu94Val)

gnomAD frequency: 0.00033  dbSNP: rs56302117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275447 SCV000351326 benign Autoimmune lymphoproliferative syndrome type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000275447 SCV001028544 likely benign Autoimmune lymphoproliferative syndrome type 1 2024-01-22 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000275447 SCV001190393 uncertain significance Autoimmune lymphoproliferative syndrome type 1 2019-11-19 criteria provided, single submitter clinical testing FASLG NM_000639.2 exon 1 p.Leu94Val (c.280T>G): This variant has not been reported in the literature but is present in 0.9% (196/19948) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-172628621-T-G?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:293735). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001764258 SCV002007932 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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