ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)

dbSNP: rs2089853535
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896689 SCV002167754 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-07-17 criteria provided, single submitter clinical testing This variant disrupts a region of the POMGNT2 protein in which other variant(s) (p.Glu519*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change creates a premature translational stop signal (p.Arg40*) in the POMGNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 541 amino acid(s) of the POMGNT2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1400524). For these reasons, this variant has been classified as Pathogenic.

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