Submissions for variant NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)

gnomAD frequency: 0.00010  dbSNP: rs1054683823

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000814293	SCV000954696	uncertain significance	ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14	2022-08-09	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 78 of the ALG2 protein (p.Gly78Arg). This variant is present in population databases (no rsID available, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 657644). 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 tolerated. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252247	SCV002523584	uncertain significance	See cases	2019-05-08	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2, BP4