ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln)

gnomAD frequency: 0.00004  dbSNP: rs199612856
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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 RCV000908406 SCV001053163 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818806 SCV002066553 uncertain significance not specified 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958276 SCV004767662 likely benign POMGNT2-related disorder 2022-08-09 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).
Ophthalmology Lab, The First People's Hospital of Yunnan Provience RCV004731059 SCV005326282 likely pathogenic concomitant exotropia 2024-08-30 no assertion criteria provided clinical testing Dominant inheritance. POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4)), is the pedigree coisolation gene in F10 (c.1181G>A(p.R394Q)). The variant was not detected in 422 sporadic concomitant exotropia samples and 239 normal samples. Subsequent capture and sequencing results showed that 4 different SNP mutations were acquired in 220 sporadic samples. The results show that POMGNT2 has a variety of mutations in concomitant exotropia, and it could be an underlying pathogenic gene. POMGNT2 is a protein-coding gene associated with muscular dystrophy-dystroglycanopathy. This is consistent with muscular factors related to the pathogenesis of strabismus.

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