ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2046+6G>T

dbSNP: rs748175413
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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 RCV001360129 SCV001556031 uncertain significance Deficiency of alpha-mannosidase 2021-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 16 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 of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. 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.
Natera, Inc. RCV001360129 SCV002086913 uncertain significance Deficiency of alpha-mannosidase 2020-10-28 no assertion criteria provided clinical testing

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