ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)

gnomAD frequency: 0.00004  dbSNP: rs371184292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689500 SCV000817154 uncertain significance Charcot-Marie-Tooth disease type 2 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 368 of the AARS protein (p.Pro368Ser). This variant is present in population databases (rs371184292, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 568982). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt AARS protein function with a negative predictive value of 95%. 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 RCV001700450 SCV001990131 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genetics, Academic Medical Center RCV001700450 SCV001921591 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700450 SCV001927401 uncertain significance not provided no assertion criteria provided clinical testing

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