ClinVar Miner

Submissions for variant NM_000151.4(G6PC):c.132C>T (p.Tyr44=) (rs202190197)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428742 SCV000513087 likely benign not specified 2016-10-18 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.
Integrated Genetics/Laboratory Corporation of America RCV000428742 SCV000917381 benign not specified 2018-07-02 criteria provided, single submitter clinical testing Variant summary: G6PC c.132C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0012 in 121408 control chromosomes, predominantly at a frequency of 0.0078 within the South Asian subpopulation in the ExAC database. The observed variant frequency within South Asian control individuals in the ExAC database is approximately 5-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in G6PC causing Glycogen Storage Disease Type Ia phenotype (0.0017), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. To our knowledge, no occurrence of c.132C>T in individuals affected with Glycogen Storage Disease Type Ia and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as "likely benign." Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000966422 SCV001113742 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-12-31 criteria provided, single submitter clinical testing

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