ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)

dbSNP: rs781291011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761476 SCV000891589 pathogenic Deficiency of alpha-mannosidase 2017-12-30 criteria provided, single submitter curation
Genome-Nilou Lab RCV000761476 SCV002014442 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000761476 SCV003443116 pathogenic Deficiency of alpha-mannosidase 2022-10-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 623335). This premature translational stop signal has been observed in individual(s) with an abnormality of the cardiovascular system (PMID: 26633542). This sequence change creates a premature translational stop signal (p.Tyr401*) 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000761476 SCV005655507 likely pathogenic Deficiency of alpha-mannosidase 2024-02-25 criteria provided, single submitter clinical testing

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