Submissions for variant NM_000528.4(MAN2B1):c.426del (p.Val143fs)

dbSNP: rs2024205685

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001047909	SCV001211893	pathogenic	Deficiency of alpha-mannosidase	2024-10-07	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val143Cysfs*14) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 844937). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV001047909	SCV002014512	pathogenic	Deficiency of alpha-mannosidase	2021-09-05	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001047909	SCV004191872	likely pathogenic	Deficiency of alpha-mannosidase	2023-07-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001047909	SCV005655519	likely pathogenic	Deficiency of alpha-mannosidase	2024-01-30	criteria provided, single submitter	clinical testing