ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)

dbSNP: rs767323371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411220 SCV000485421 likely pathogenic Deficiency of alpha-mannosidase 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000411220 SCV001580512 pathogenic Deficiency of alpha-mannosidase 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370174). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is present in population databases (rs767323371, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser899*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967).
Genome-Nilou Lab RCV000411220 SCV002014486 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411220 SCV004191921 likely pathogenic Deficiency of alpha-mannosidase 2022-06-03 criteria provided, single submitter clinical testing

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