ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.1534G>C (p.Asp512His)

gnomAD frequency: 0.00073  dbSNP: rs146512155
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298603 SCV000463659 uncertain significance Combined oxidative phosphorylation deficiency 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998614 SCV001154760 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000998614 SCV002201019 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 512 of the AARS2 protein (p.Asp512His). This variant is present in population databases (rs146512155, gnomAD 0.06%). 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: 357070). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV000998614 SCV003918765 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578320 SCV000680132 likely pathogenic Combined oxidative phosphorylation defect type 8 2017-09-08 flagged submission clinical testing

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