ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1645-1G>A

gnomAD frequency: 0.00001  dbSNP: rs938576591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677673 SCV000803814 likely pathogenic Deficiency of alpha-mannosidase 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000677673 SCV001591763 pathogenic Deficiency of alpha-mannosidase 2021-08-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000677673 SCV002014320 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000677673 SCV002060031 likely pathogenic Deficiency of alpha-mannosidase 2021-11-18 criteria provided, single submitter clinical testing NM_000528.3(MAN2B1):c.1645-1G>A is a canonical splice variant classified as likely pathogenic in the context of alpha-mannosidosis. c.1645-1G>A has been observed in cases with relevant disease (PMID: 22161967, 31241255). Functional assessments of this variant are not available in the literature. c.1645-1G>A has been observed in population frequency databases (gnomAD: NFE < 0.002%). In summary, NM_000528.3(MAN2B1):c.1645-1G>A is a canonical splice variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.

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