ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) (rs148032587)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624392 SCV000741807 pathogenic Inborn genetic diseases 2016-09-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514031 SCV000610832 pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing
Counsyl RCV000178754 SCV000678023 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2014-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514031 SCV000230902 pathogenic not provided 2014-06-04 criteria provided, single submitter clinical testing
Invitae RCV000178754 SCV000816991 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 148 of the PMM2 protein (p.Asp148Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs148032587, ExAC 0.03%). This variant has been reported in combination with other PMM2 variants in several individuals affected with PMM2-CDG (CDG-Ia) and in trans with a likely pathogenic variant in one of these individuals (PMID: 10801058, 18203160, 11715002). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 197659). Experimental studies have shown that this missense change reduces PMM2 enzymatic activity in vitro (PMID: 11715002). For these reasons, this variant has been classified as Pathogenic.

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