ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.1A>G (p.Met1Val)

dbSNP: rs786204591
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169340 SCV000220694 likely pathogenic PMM2-congenital disorder of glycosylation 2014-09-12 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000169340 SCV001586235 pathogenic PMM2-congenital disorder of glycosylation 2023-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly15 amino acid residue in PMM2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12626389, 28454995; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 188965). Disruption of the initiator codon has been observed in individual(s) with PMM2-congenital disorder of glycosylation (PMID: 18948042). This variant is present in population databases (rs786204591, gnomAD 0.0009%). This sequence change affects the initiator methionine of the PMM2 mRNA. The next in-frame methionine is located at codon 28.
Natera, Inc. RCV000169340 SCV002089458 pathogenic PMM2-congenital disorder of glycosylation 2020-03-31 no assertion criteria provided clinical testing

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