ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) (rs34258285)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078593 SCV000110449 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078593 SCV000303555 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288257 SCV000399677 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078593 SCV000519729 benign not specified 2016-03-04 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078593 SCV000540062 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.9% in ExAC, 5% Finnish, 36 homozygotes
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000607305 SCV000743898 likely benign Congenital disorder of glycosylation, type Ia 2014-10-09 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000607305 SCV000803533 benign Congenital disorder of glycosylation, type Ia 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Congenital disorder of glycosylation, type IA, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BS3-Supporting => BS3 downgraded in strength to supporting (PMID:21541725).
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607305 SCV000733553 benign Congenital disorder of glycosylation, type Ia no assertion criteria provided clinical testing

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