ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2165+1G>A (rs80338679)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020366 SCV001232498 pathogenic Deficiency of alpha-mannosidase 2020-01-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the MAN2B1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with alpha mannosidosis (PMID: 9915946). ClinVar contains an entry for this variant (Variation ID: 21209). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9915946). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020366 SCV000040753 pathologic Deficiency of alpha-mannosidase 2012-05-03 no assertion criteria provided curation Converted during submission to Pathogenic.

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