ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)

gnomAD frequency: 0.00022  dbSNP: rs140230479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000509297 SCV001107608 likely benign Glycogen storage disease type X 2024-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000509297 SCV001325561 likely benign Glycogen storage disease type X 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV001200533 SCV001371521 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509297 SCV000607023 not provided Glycogen storage disease type X no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003935335 SCV004747910 likely benign PGAM2-related disorder 2022-05-25 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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