ClinVar Miner

Submissions for variant NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)

dbSNP: rs376870425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001095800 SCV001468557 likely pathogenic Congenital disorder of glycosylation, type iit 2020-12-18 criteria provided, single submitter curation This variant is interpreted as Likely pathogenic for Congenital disorder of glycosylation 2T, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Well-established functional studies show a deleterious effect (PS3).
OMIM RCV001095800 SCV001251643 pathogenic Congenital disorder of glycosylation, type iit 2020-05-20 no assertion criteria provided literature only

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