ClinVar Miner

Submissions for variant NM_001004127.3(ALG11):c.646G>A (p.Gly216Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003393324 SCV004133167 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ALG11: BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690409 SCV005185208 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing Variant summary: ALG11 c.646G>A (p.Gly216Arg) results in a non-conservative amino acid change located in the ALG11 mannosyltransferase, N-terminal domain (IPR031814) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251246 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.646G>A in individuals affected with ALG11-Congenital Disorder Of Glycosylation and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2643824). Based on the evidence outlined above, the variant was classified as uncertain significance.

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