Submissions for variant NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)

gnomAD frequency: 0.00140  dbSNP: rs74754826

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000778285	SCV000914461	uncertain significance	Mannose-binding lectin deficiency	2019-01-11	criteria provided, single submitter	clinical testing	The MBL2 c.628G>T (p.Glu210Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Glu210Ter variant has been reported in one study in which it is found in a heterozygous state in three of 12 individuals with hyperhemolysis syndrome and in three of 202 controls in the same study (Mwesigwa et al. 2018). The variant is reported at a frequency of 0.01389 in the Yoruba of Ibadan, Nigeria population of the 1000 Genomes Project. This allele frequency is high but is consistent with the disease prevalence. The evidence for this variant is limited. Based on the potential impact of stop-gained variants, the p.Glu210Ter variant is classified as a variant of unknown significance for mannose-binding lectin deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883897	SCV001027235	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing