ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs)

dbSNP: rs2125700249
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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 RCV002037757 SCV002233290 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2022-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys274Alafs*19) in the POMGNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 307 amino acid(s) of the POMGNT2 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POMGNT2 protein in which other variant(s) (p.Gln348*) 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 variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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