Submissions for variant NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile)

gnomAD frequency: 0.00213  dbSNP: rs143780139

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000974711	SCV001122555	likely benign	Agammaglobulinemia 2, autosomal recessive	2024-01-25	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000974711	SCV002495797	uncertain significance	Agammaglobulinemia 2, autosomal recessive	2021-06-21	criteria provided, single submitter	clinical testing	IGLL1 NM_020070.3 exon 3 p.Thr117Ile (c.350C>T): This variant has been reported in the literature in at least 3 individuals with progressive multifocal leukoencephalopathy as a potential risk allele for this condition (Eis 2020 PMID:32256442). _x000D_ This variant is present in 0.5% (208/41446) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/22-23573558-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:791698). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572741	SCV001797568	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572741	SCV001966041	uncertain significance	not provided		no assertion criteria provided	clinical testing