Submissions for variant NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)

gnomAD frequency: 0.00006  dbSNP: rs368524364

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000988375	SCV000644889	benign	Familial hemophagocytic lymphohistiocytosis 2	2024-01-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000988375	SCV001138065	likely benign	Familial hemophagocytic lymphohistiocytosis 2	2019-05-28	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000988375	SCV001435149	benign	Familial hemophagocytic lymphohistiocytosis 2		criteria provided, single submitter	research	The heterozygous p.Ala211Val variant in PRF1 has been identified in 2 Chinese individuals with familial haemophagocytic lymphohistiocytosis and in 1 individual with large cell anaplastic lymphoma (PMID: 21674762, 24309606), and has been identified in >1% of South Asian chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive familial haemophagocytic lymphohistiocytosis.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261111	SCV002542791	uncertain significance	Autoinflammatory syndrome	2016-12-12	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316710	SCV004017106	benign	Lymphoma, non-Hodgkin, familial	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003419966	SCV004126689	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	PRF1: BP4, BS1, BS2