ClinVar Miner

Submissions for variant NM_000303.2(PMM2):c.324G>A (p.Ala108=) (rs62031146)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000554451 SCV000733547 benign Carbohydrate-deficient glycoprotein syndrome type I no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000117997 SCV000257665 benign not specified 2015-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000117997 SCV000517828 benign not specified 2016-02-23 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.
Genetic Services Laboratory, University of Chicago RCV000117997 SCV000152315 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000262546 SCV000399671 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000117997 SCV000920010 benign not specified 2017-09-25 criteria provided, single submitter clinical testing Variant summary: The PMM2 c.324G>A (p.Ala108Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging 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 site of SRp55. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2137/121286 control chromosomes at a frequency of 0.0176195, which is approximately 3 times the estimated maximal expected allele frequency of a pathogenic PMM2 variant (0.0055902), 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.
Invitae RCV000554451 SCV000633724 benign Carbohydrate-deficient glycoprotein syndrome type I 2017-05-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117997 SCV000303550 benign not specified criteria provided, single submitter clinical testing

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