ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)

gnomAD frequency: 0.00001  dbSNP: rs775247526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260326 SCV001437253 uncertain significance not specified 2020-09-21 criteria provided, single submitter clinical testing Variant summary: MAN2B1 c.1893G>T (p.Gln631His) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 38, C-terminal domain (IPR011682) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251456 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in MAN2B1 causing Alpha-Mannosidosis (0.00011 vs 0.0016), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1893G>T in individuals affected with Alpha-Mannosidosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001830061 SCV003254408 likely benign Deficiency of alpha-mannosidase 2024-02-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830061 SCV002086918 uncertain significance Deficiency of alpha-mannosidase 2020-02-26 no assertion criteria provided clinical testing

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