ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.679G>A (p.Asp227Asn)

gnomAD frequency: 0.00009  dbSNP: rs765016818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998615 SCV001154761 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332353 SCV001524650 uncertain significance Combined oxidative phosphorylation defect type 8 2019-01-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000998615 SCV002165719 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 227 of the AARS2 protein (p.Asp227Asn). This variant is present in population databases (rs765016818, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 809943). 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 expected to disrupt AARS2 protein function. 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.

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