ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1929-1G>T

gnomAD frequency: 0.00002  dbSNP: rs763100457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623252 SCV000741728 pathogenic Inborn genetic diseases 2016-08-11 criteria provided, single submitter clinical testing
Counsyl RCV000668849 SCV000793521 likely pathogenic Deficiency of alpha-mannosidase 2017-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668849 SCV002014242 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668849 SCV004191883 likely pathogenic Deficiency of alpha-mannosidase 2023-05-25 criteria provided, single submitter clinical testing
Invitae RCV000668849 SCV004649838 likely pathogenic Deficiency of alpha-mannosidase 2024-01-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 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 is present in population databases (rs763100457, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 521235). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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