Submissions for variant NM_005373.3(MPL):c.340G>A (p.Val114Met)

gnomAD frequency: 0.02191  dbSNP: rs12731981

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000121540	SCV000311029	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000371334	SCV000357757	likely benign	Congenital amegakaryocytic thrombocytopenia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000467700	SCV000563310	benign	Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000371334	SCV000790144	likely benign	Congenital amegakaryocytic thrombocytopenia	2017-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001594849	SCV001829133	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 11133753, 21228398, 24728327, 20981092, 22995991)
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	RCV000371334	SCV003843864	likely pathogenic	Congenital amegakaryocytic thrombocytopenia		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000121540	SCV004847405	likely benign	not specified	2023-12-28	criteria provided, single submitter	clinical testing	The p.Val114Met variant in MPL is classified as likely benign because it has been identified in 3.3% (2251/68026) of European chromosomes including 48 homozygotes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). In addition, computational prediction tools predict that this variant does not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
ITMI	RCV000121540	SCV000085734	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV000371334	SCV001453973	benign	Congenital amegakaryocytic thrombocytopenia	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001594849	SCV002034174	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001594849	SCV002036551	likely benign	not provided		no assertion criteria provided	clinical testing