ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.310C>G (p.Leu104Val) (rs770458492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437277 SCV000515964 pathogenic not provided 2015-03-10 criteria provided, single submitter clinical testing The L104V variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variantin these populations. This substitution occurs at a position that is conserved across species. In silicoanalysis predict this variant is probably damaging to the protein structure/function. Missense variants innearby residues (N101K, Y102C, C103F, Y106C, Y106F, A108V, P113A, P113L) have been reported inthe Human Gene Mutation Database in association with congenital disorder of glycosylation type Ia(CDG1A) (Stenson et al., 2014), supporting the functional importance of this region of the protein.Therefore, this variant is interpreted as a pathogenic variant.

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