ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217756 SCV001389608 likely pathogenic Deficiency of alpha-mannosidase 2019-06-29 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MAN2B1 gene (p.Glu963Serfs*65). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acids of the MAN2B1 protein and extend the protein by an additional 16 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAN2B1-related conditions. This variant results in an extension of the MAN2B1 protein. Other variant(s) that result in a similarly extended protein product (p.Glu963Argfs*70, Pro982Thrfs*50) have been observed in individuals with MAN2B1-related conditions (PMID: 22161967, 26048034). This suggests that these extensions may be clinically significant. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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