ClinVar Miner

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

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Total submissions: 4
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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

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