ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2152_2165+1dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002907788 SCV003245241 uncertain significance Deficiency of alpha-mannosidase 2024-01-24 criteria provided, single submitter clinical testing This variant, c.2146_2160dup, results in the insertion of 5 amino acid(s) of the MAN2B1 protein (p.Val716_Pro720dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is also known as c.2152_2165+1dup. ClinVar contains an entry for this variant (Variation ID: 2039078). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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