Submissions for variant NM_032607.3(CREB3L3):c.732dup (p.Lys245fs)

gnomAD frequency: 0.00038  dbSNP: rs780374391

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Leipzig Medical Center	RCV001780210	SCV002026425	uncertain significance	Hypertriglyceridemia 2	2021-10-20	criteria provided, single submitter	clinical testing	_x000D_ Criteria applied: PVS1_STR, PS4_SUP
Invitae	RCV002069370	SCV002370987	likely benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV002069370	SCV002501413	uncertain significance	not provided	2021-05-29	criteria provided, single submitter	clinical testing
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation	RCV001257913	SCV001328433	pathogenic	Hypertriglyceridemia 1	2020-05-27	no assertion criteria provided	clinical testing	Multiple, unrelated, probands were referred, from independent clinics, for clinical genetic testing for familial hyperchtriglyceridemia. Probands were referred for clinical genetic testing presented with severe hypertriglyceridemia, low HDL-cholesterol and type 2 diabetes. Clinical genetic testing identified heterozygosity for the p.Lys245GlufsTer130 (NM_032607.3:c.732dupG) genetic variant in the the germline. The pathogenicity of this variant is supported by several publications that have demonstrated that this variant is a loss-of-function and is a cause of severe hypertriglyceridemia.