Submissions for variant NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) (rs150989205)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001035283	SCV001198607	uncertain significance	Charcot-Marie-Tooth disease, type 4A	2019-11-13	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). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 20232219). 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"). 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.
Inherited Neuropathy Consortium	RCV000789148	SCV000928500	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only

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