Submissions for variant NM_001605.2(AARS1):c.304G>C (p.Gly102Arg) (rs1597446183)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000807351	SCV000947399	uncertain significance	Charcot-Marie-Tooth disease, type 2	2018-10-05	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with arginine at codon 102 of the AARS protein (p.Gly102Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease in a family (PMID: 25904691), and in an unrelated individual with neuropathy and hyperreflexia (PMID: 26032230). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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	RCV001027508	SCV001190083	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only

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