Submissions for variant NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003087861	SCV003474526	uncertain significance	PMM2-congenital disorder of glycosylation	2022-08-09	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 47 of the PMM2 protein (p.Ser47Leu). This variant is present in population databases (rs138306798, gnomAD 0.009%). This missense change has been observed in individual(s) with PMM2-congenital disorders of glycosylation (PMID: 33413482). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV003883878	SCV004700704	likely pathogenic	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PMM2: PM2, PM3, PP4:Moderate
Baylor Genetics	RCV003087861	SCV005056359	likely pathogenic	PMM2-congenital disorder of glycosylation	2024-03-30	criteria provided, single submitter	clinical testing