ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)

gnomAD frequency: 0.00001  dbSNP: rs1175779934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325076 SCV001516053 uncertain significance Deficiency of alpha-mannosidase 2022-07-05 criteria provided, single submitter clinical testing This sequence change affects codon 103 of the MAN2B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MAN2B1 protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1024843). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001325076 SCV002086945 uncertain significance Deficiency of alpha-mannosidase 2020-02-28 no assertion criteria provided clinical testing

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