Submissions for variant NM_002227.4(JAK1):c.1951G>A (p.Val651Met)

gnomAD frequency: 0.00093  dbSNP: rs149968614

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001725975	SCV002287677	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002055339	SCV002495810	uncertain significance	Autoinflammation, immune dysregulation, and eosinophilia	2021-08-31	criteria provided, single submitter	clinical testing	JAK1 NM_002227.4 exon 14 p.Val651Met (c.1951G>A): This variant has not been reported in the literature but is present in 0.1% (34/30580) of South Asian alleles, including 1 homozygote, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-65312368-C-T?dataset=gnomad_r2_1). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001725975	SCV004700363	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing
ITMI	RCV000121231	SCV000085402	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001725975	SCV001962840	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001725975	SCV001970739	likely benign	not provided		no assertion criteria provided	clinical testing