ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057516886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410575 SCV000486382 likely pathogenic PMM2-congenital disorder of glycosylation 2016-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410575 SCV001403756 pathogenic PMM2-congenital disorder of glycosylation 2021-11-08 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 370944). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. 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).

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