ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2356-2A>G (rs1064793936)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478158 SCV000567399 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing The c.2356-2A>G variant in the MAN2B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 19. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject tononsense-mediated mRNA decay, or to an abnormal protein product if the message is used for proteintranslation. Therefore, we interpret the c.2356-2 A>G variant in MAN2B1 as pathogenic.
Centogene AG - the Rare Disease Company RCV001251160 SCV001426563 likely pathogenic Deficiency of alpha-mannosidase criteria provided, single submitter clinical testing

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