ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795195 SCV000934639 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-12-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PMM2 gene (p.Tyr229*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the PMM2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMM2-related conditions. This variant disrupts the downstream p.Val231 amino acid residue in PMM2. Another variant that disrupts this residue has been observed in individuals with PMM2-related conditions (PMID: 9497260, 10801058, 15844218, 23430838, 25355454), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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.

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