Submissions for variant NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)

dbSNP: rs797044680

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000790702	SCV000227631	pathogenic	not provided	2015-06-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000176041	SCV000798977	likely pathogenic	Deficiency of alpha-mannosidase	2018-04-03	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000176041	SCV000803813	likely pathogenic	Deficiency of alpha-mannosidase	2015-07-29	criteria provided, single submitter	clinical testing
Invitae	RCV000176041	SCV001395669	pathogenic	Deficiency of alpha-mannosidase	2023-09-04	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 195465). This premature translational stop signal has been observed in individuals with clinical features of alpha-mannosidosis (PMID: 22161967, 26048034, 26633546). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser802Glnfs*129) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967).
Genome-Nilou Lab	RCV000176041	SCV002014076	pathogenic	Deficiency of alpha-mannosidase	2021-09-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000176041	SCV002017219	pathogenic	Deficiency of alpha-mannosidase	2021-08-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000176041	SCV002086903	pathogenic	Deficiency of alpha-mannosidase	2020-05-08	no assertion criteria provided	clinical testing