ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) (rs367543075)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000119390 SCV000568240 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing The c.824_825dupTT pathogenic variant in the B3GALNT2 gene has been reported previously in anindividual with Walker-Warburg syndrome who also had a second pathogenic variant in B3GALNT2(Stevens et al., 2013). In this study, c.824_825dupTT was reported as c.822_823dup due to the use ofalternative nomenclature. The duplication causes a frameshift starting with codon Isoleucine 276,changes this amino acid to a Leucine residue and creates a premature Stop codon at position 26 of thenew reading frame, denoted p.Ile276LeufsX26. This pathogenic variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625390 SCV000745211 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-05-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625390 SCV000745854 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-10-12 criteria provided, single submitter clinical testing
Invitae RCV000625390 SCV000826128 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2018-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile276Leufs*26) in the B3GALNT2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs367543075, ExAC 0.04%). This variant has been reported to segregate with congenital muscular dystrophy-dystroglycanopathy in a family (PMID: 29273094). This variant has been reported  in combination with another pathogenic B3GALNT2 variant in an individual affected with congenital muscular dystrophy (PMID: 23453667). This variant is also known as c.822_823dup in the literature. ClinVar contains an entry for this variant (Variation ID: 132981). Loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). For these reasons, this variant has been classified as Pathogenic.
Leiden Muscular Dystrophy pages (B3GALNT2) RCV000119390 SCV000154297 not provided not provided no assertion provided not provided

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