ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) (rs767323371)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411220 SCV000485421 likely pathogenic Deficiency of alpha-mannosidase 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000411220 SCV001580512 pathogenic Deficiency of alpha-mannosidase 2020-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser899*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs767323371, ExAC 0.002%). This variant has not been reported in the literature in individuals with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 370174). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.

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