ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) (rs367543072)

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Total submissions: 4
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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 2019-07-10 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs367543072, ExAC 0.006%). 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 variant has been reported to affect B3GALNT2 protein function (PMID: 23453667, 29273094). 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.
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 (B3GALNT2) RCV000119387 SCV000154294 not provided not provided no assertion provided not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI) 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

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