ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2324_2325del (p.Ser775fs)

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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 RCV002863664 SCV003232433 pathogenic Charcot-Marie-Tooth disease type 2 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser775Cysfs*22) in the AARS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AARS are known to be pathogenic (PMID: 25817015, 28493438, 34446925). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AARS-related conditions.

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