ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2017del (p.Leu673fs)

dbSNP: rs781347519
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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 RCV000468199 SCV000553785 pathogenic Charcot-Marie-Tooth disease type 2 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu673Trpfs*45) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 412289). This variant has not been reported in the literature in individuals affected with AARS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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