ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2137C>T (p.Pro713Ser)

gnomAD frequency: 0.00001  dbSNP: rs750769245
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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 RCV002239806 SCV002510170 uncertain significance Charcot-Marie-Tooth disease type 2 2022-09-07 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1682162). This variant has not been reported in the literature in individuals affected with AARS-related conditions. This variant is present in population databases (rs750769245, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 713 of the AARS protein (p.Pro713Ser).

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