Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034844 | SCV001393446 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2020-01-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs367543072, ExAC 0.006%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect B3GALNT2 protein function (PMID: 23453667, 29273094). This variant has been observed in combination with another B3GALNT2 variant in an individual affected with dystroglycanopathy (PMID: 23453667). ClinVar contains an entry for this variant (Variation ID: 41934). This sequence change replaces glycine with glutamic acid at codon 247 of the B3GALNT2 protein (p.Gly247Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
Kasturba Medical College, |
RCV000034844 | SCV002053969 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | criteria provided, single submitter | research | ||
Revvity Omics, |
RCV000034844 | SCV003822662 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2023-01-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000034844 | SCV000058414 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2013-03-07 | no assertion criteria provided | literature only | |
Leiden Muscular Dystrophy pages |
RCV000119387 | SCV000154294 | not provided | not provided | no assertion provided | not provided | ||
Clin |
RCV000034844 | SCV000244032 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2013-06-27 | no assertion criteria provided | literature only |