ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) (rs746808159)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206987 SCV001227594 likely pathogenic Deficiency of alpha-mannosidase 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 263 of the MAN2B1 protein (p.Pro263Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with alpha-mannosidosis (PMID: 22161967, 24353136). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 208259). This variant has been reported to affect MAN2B1 protein function (PMID: 22161967). 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.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206987 SCV000243965 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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