Submissions for variant NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) (rs367543074)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000034848	SCV000772921	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	2017-11-20	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 268 of the B3GALNT2 protein (p.Val268Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with congenital muscular dystrophy (PMID: 23453667). ClinVar contains an entry for this variant (Variation ID: 41938). Experimental studies have shown that this missense change disrupts the localization of the B3GALNT2 protein to the endoplasmic reticulum (PMID: 23453667). 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	RCV000034848	SCV000058418	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)	RCV000119389	SCV000154296	not provided	not provided		no assertion provided	not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000034848	SCV000244035	likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	2013-06-27	no assertion criteria provided	literature only