ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1230+8G>A

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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 RCV003051006 SCV003449784 uncertain significance Deficiency of alpha-mannosidase 2022-07-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the MAN2B1 gene. It does not directly change the encoded amino acid sequence of the MAN2B1 protein.

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