ClinVar Miner

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

dbSNP: rs80338679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020366 SCV001232498 pathogenic Deficiency of alpha-mannosidase 2023-07-30 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 9915946). ClinVar contains an entry for this variant (Variation ID: 21209). Disruption of this splice site has been observed in individuals with alpha-mannosidosis (PMID: 9915946). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 17 of the MAN2B1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant disrupts a region of the MAN2B1 protein in which other variant(s) (p.Trp714Arg) have been determined to be pathogenic (PMID: 9915946, 22161967). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000020366 SCV002014187 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
GeneReviews RCV000020366 SCV000040753 not provided Deficiency of alpha-mannosidase no assertion provided literature only

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