Submissions for variant NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)

dbSNP: rs150989205

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001035283	SCV001198607	uncertain significance	Charcot-Marie-Tooth disease type 4A	2019-11-12	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glycine at codon 273 of the GDAP1 protein (p.Arg273Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 20232219).
CeGaT Center for Human Genetics Tuebingen	RCV001531081	SCV001746041	uncertain significance	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Inherited Neuropathy Consortium	RCV000789148	SCV000928500	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	RCV003319209	SCV004023220	likely pathogenic	Tip-toe gait	2022-10-10	no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami	RCV003447182	SCV004174605	uncertain significance	Charcot-Marie-Tooth disease axonal type 2K	2016-01-06	no assertion criteria provided	literature only