ClinVar Miner

Submissions for variant NM_006715.4(MAN2C1):c.601-2A>G

gnomAD frequency: 0.00120  dbSNP: rs147928844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001843379 SCV004562196 uncertain significance Congenital disorder of deglycosylation 2 2023-08-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001843379 SCV004805802 likely pathogenic Congenital disorder of deglycosylation 2 2024-03-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526868 SCV005039811 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing Variant summary: MAN2C1 c.601-2A>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0011 in 243844 control chromosomes. c.601-2A>G has been reported in the literature in individuals affected with congenital disorder of deglycosylation (Maia_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 37486637, 35045343). ClinVar contains an entry for this variant (Variation ID: 1342926). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
OMIM RCV001843379 SCV002102496 pathogenic Congenital disorder of deglycosylation 2 2022-03-31 no assertion criteria provided literature only

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