ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2355+6T>A

gnomAD frequency: 0.00003  dbSNP: rs1052970162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803558 SCV000943436 uncertain significance Deficiency of alpha-mannosidase 2022-07-12 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the MAN2B1 gene. It does not directly change the encoded amino acid sequence of the MAN2B1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 648756). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489894 SCV004240930 uncertain significance not specified 2023-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000803558 SCV001454348 uncertain significance Deficiency of alpha-mannosidase 2020-09-16 no assertion criteria provided clinical testing

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