ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.343T>C (p.Cys115Arg)

gnomAD frequency: 0.00004  dbSNP: rs773582597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002236963 SCV002510369 uncertain significance Charcot-Marie-Tooth disease type 2 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 115 of the AARS protein (p.Cys115Arg). This variant is present in population databases (rs773582597, gnomAD 0.003%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 1682313). 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 AARS protein function with a positive predictive value of 80%. 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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