ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.211T>C (p.Trp71Arg)

dbSNP: rs119103237
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Total submissions: 2
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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 RCV003234888 SCV003933823 uncertain significance not specified 2023-05-08 criteria provided, single submitter clinical testing Variant summary: ALG3 c.211T>C (p.Trp71Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 247990 control chromosomes (gnomAD). c.211T>C has been reported in the literature as a compound heterozygous genotype in two siblings affected with ALG3-congenital disorder of glycosylation (e.g. Kranz_2007). 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: 17551933, 12357336). 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 VUS-possibly pathogenic.
OMIM RCV000002212 SCV000022370 pathogenic ALG3-congenital disorder of glycosylation 2007-07-01 no assertion criteria provided literature only

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