ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.763+2_763+8del

dbSNP: rs1057517108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409213 SCV000486759 likely pathogenic Deficiency of alpha-mannosidase 2016-08-02 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268902 SCV001448146 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000409213 SCV002811674 likely pathogenic Deficiency of alpha-mannosidase 2022-01-25 criteria provided, single submitter clinical testing
Invitae RCV000409213 SCV003018862 likely pathogenic Deficiency of alpha-mannosidase 2022-12-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371229). 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 affects a splice site in intron 5 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).
Baylor Genetics RCV000409213 SCV004191865 likely pathogenic Deficiency of alpha-mannosidase 2023-08-07 criteria provided, single submitter clinical testing

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