ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) (rs80338704)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790726 SCV000232043 pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000008151 SCV000743897 pathogenic Congenital disorder of glycosylation, type Ia 2017-07-28 criteria provided, single submitter clinical testing
Counsyl RCV000008151 SCV000799182 likely pathogenic Congenital disorder of glycosylation, type Ia 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV000008151 SCV001201500 pathogenic Congenital disorder of glycosylation, type Ia 2019-02-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 188 of the PMM2 protein (p.Asp188Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs80338704, ExAC 0.001%). This variant has been observed in several individuals and families affected with PMM2-related conditions (PMID: 9497260, 24139637). ClinVar contains an entry for this variant (Variation ID: 7712). This variant has been reported to affect PMM2 protein function (PMID: 10386614). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008151 SCV000028356 pathogenic Congenital disorder of glycosylation, type Ia 1998-03-01 no assertion criteria provided literature only
GeneReviews RCV000008151 SCV000040586 pathologic Congenital disorder of glycosylation, type Ia 2011-04-21 no assertion criteria provided curation Converted during submission to Pathogenic.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000008151 SCV000733552 pathogenic Congenital disorder of glycosylation, type Ia no assertion criteria provided clinical testing

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