ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807161 SCV000947201 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 183 of the PMM2 protein (p.Phe183Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs780581250, ExAC 0.004%). This variant has been observed to be homozygous or in combination with another PMM2 variant in individuals affected with congenital disorder of glycosylation I (PMID: 10801058, 11409861, 21541725, Invitae) including one individual in whom this variant has been observed on the opposite chromosome (in trans) from another pathogenic variant. This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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