ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1645-3G>A

gnomAD frequency: 0.00004  dbSNP: rs748206062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278025 SCV002216924 uncertain significance Deficiency of alpha-mannosidase 2021-09-24 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the MAN2B1 gene. It does not directly change the encoded amino acid sequence of the MAN2B1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs748206062, ExAC 0.002%). This variant has not been reported in the literature in individuals with MAN2B1-related conditions. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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.
Natera, Inc. RCV001278025 SCV001465016 uncertain significance Deficiency of alpha-mannosidase 2020-10-26 no assertion criteria provided clinical testing

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