Submissions for variant NM_001605.3(AARS1):c.35A>G (p.Gln12Arg)

dbSNP: rs1960733766

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001265887	SCV001444059	uncertain significance	Inborn genetic diseases	2018-02-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003744790	SCV004426645	uncertain significance	Charcot-Marie-Tooth disease type 2	2023-01-20	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 12 of the AARS protein (p.Gln12Arg). This variant is not present in population databases (gnomAD 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AARS protein function. ClinVar contains an entry for this variant (Variation ID: 985135). This variant has not been reported in the literature in individuals affected with AARS-related conditions.