ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2355+5C>G

gnomAD frequency: 0.00009  dbSNP: rs770412137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615262 SCV000725119 likely benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002532790 SCV003467329 uncertain significance Deficiency of alpha-mannosidase 2022-06-15 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 (rs770412137, gnomAD 0.09%). 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: 513672). 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.
PreventionGenetics, part of Exact Sciences RCV003892359 SCV004716347 likely benign MAN2B1-related condition 2023-12-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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