ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer)

dbSNP: rs747345978
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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 RCV001345097 SCV001539196 uncertain significance Charcot-Marie-Tooth disease type 2 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu914*) in the AARS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the AARS protein. This variant is present in population databases (rs747345978, gnomAD 0.03%). 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: 1041309). This variant disrupts a region of the AARS protein in which other variant(s) (p.Phe958Ser) have been observed in individuals with AARS-related conditions (PMID: 30214071, 34645488). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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