ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter)

dbSNP: rs747691921
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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 RCV001368082 SCV001564460 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2021-07-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs747691921, ExAC 0.002%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1058894). This premature translational stop signal has been observed in individual(s) with clinical features of POMGNT2-related muscular dystrophy (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change creates a premature translational stop signal (p.Glu519*) in the POMGNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the POMGNT2 protein.

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