ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.963G>A (p.Pro321=)

gnomAD frequency: 0.00010  dbSNP: rs373693932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602807 SCV000721679 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003653227 SCV004561438 likely benign PGM1-congenital disorder of glycosylation 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544749 SCV004799314 likely benign PGM1-related disorder 2019-04-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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