ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)

gnomAD frequency: 0.00002  dbSNP: rs755487513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691508 SCV000819291 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-05-15 criteria provided, single submitter clinical testing 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.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. ClinVar contains an entry for this variant (Variation ID: 570608). This premature translational stop signal has been observed in individual(s) with clinical features of Walker-Warburg syndrome (Invitae). This variant is present in population databases (rs755487513, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln411Argfs*55) in the POMGNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 170 amino acid(s) of the POMGNT2 protein.

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