Submissions for variant NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) (rs140135726)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000461393	SCV000553784	uncertain significance	Charcot-Marie-Tooth disease, type 2	2019-12-19	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with serine at codon 340 of the AARS protein (p.Asn340Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs140135726, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with distal myopathy (PMID: 25783436). ClinVar contains an entry for this variant (Variation ID: 412288). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV000999701	SCV001156487	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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