ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)

gnomAD frequency: 0.00106  dbSNP: rs139287952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528878 SCV000654117 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001558105 SCV001779981 likely benign not provided 2019-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001558105 SCV005214292 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003962586 SCV004784199 likely benign B4GAT1-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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