ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.735G>A (p.Ala245=)

gnomAD frequency: 0.00023  dbSNP: rs146028700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445296 SCV000533231 likely benign not specified 2016-11-04 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 RCV001392594 SCV001594239 likely benign PGM1-congenital disorder of glycosylation 2022-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711088 SCV005258524 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004539895 SCV004783533 likely benign PGM1-related disorder 2020-07-20 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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