ClinVar Miner

Submissions for variant NM_000151.3(G6PC):c.432G>A (p.Pro144=) (rs161628)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198452 SCV000251519 benign not specified 2014-06-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000271490 SCV000402980 likely benign Glycogen storage disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000198452 SCV000917378 benign not specified 2017-11-07 criteria provided, single submitter clinical testing Variant summary: The G6PC c.432G>A (p.Pro144Pro) variant causes a missense change located in the Phosphatidic acid phosphatase type 2/haloperoxidase domain (IPR000326) (InterPro) involving the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2067/276430 control chromosomes in gnomAD, including 72 homozygous individuals, at a frequency of 0.0074775, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic G6PC variant (0.0017321), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675764 SCV000801485 benign not provided 2017-04-14 no assertion criteria provided clinical testing
PreventionGenetics RCV000198452 SCV000302655 benign not specified criteria provided, single submitter clinical testing

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