ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) (rs1057516864)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409219 SCV000486344 likely pathogenic Deficiency of alpha-mannosidase 2016-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409219 SCV001163442 pathogenic Deficiency of alpha-mannosidase criteria provided, single submitter clinical testing
Invitae RCV000409219 SCV001232111 pathogenic Deficiency of alpha-mannosidase 2019-11-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MAN2B1 gene (p.Val935Argfs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acids of the MAN2B1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with alpha-mannosidosis (PMID: 22161967). ClinVar contains an entry for this variant (Variation ID: 370914). This variant results in an extension of the MAN2B1 protein. Other variant(s) that result in a similarly extended protein product (p.Thr974Asnfs*) have been determined to be pathogenic (PMID: 22161967, 26048034). This suggests that these extensions are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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