ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.762+1G>A (rs757347274)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623844 SCV000742988 likely pathogenic Inborn genetic diseases 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000695954 SCV000824495 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-07-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the B3GALNT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs757347274, ExAC 0.009%). This variant has not been reported in the literature in individuals with B3GALNT2-related disease. ClinVar contains an entry for this variant (Variation ID: 522103). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000695954 SCV000893980 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2018-10-31 criteria provided, single submitter clinical testing

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