ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.212A>G (p.Asn71Ser)

gnomAD frequency: 0.65415  dbSNP: rs238238
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391776 SCV000404242 benign Glycogen storage disease due to muscle beta-enolase deficiency 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000438689 SCV000517570 benign not specified 2015-12-02 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 RCV000391776 SCV001720068 benign Glycogen storage disease due to muscle beta-enolase deficiency 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000391776 SCV001876026 benign Glycogen storage disease due to muscle beta-enolase deficiency 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000509380 SCV005254751 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV000509380 SCV000607355 not provided not provided 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000509380 SCV000801044 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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