ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)

dbSNP: rs201855351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059093 SCV001223700 pathogenic PMM2-congenital disorder of glycosylation 2023-02-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 854121). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. This variant is present in population databases (rs201855351, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp187*) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844).
Baylor Genetics RCV001059093 SCV004205307 likely pathogenic PMM2-congenital disorder of glycosylation 2023-12-31 criteria provided, single submitter clinical testing

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