ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.479+5G>T

gnomAD frequency: 0.00001  dbSNP: rs1487772006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002236958 SCV002510283 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-24 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the AARS gene. It does not directly change the encoded amino acid sequence of the AARS protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). 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: 1682308). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV003269139 SCV003981320 uncertain significance Inborn genetic diseases 2023-05-22 criteria provided, single submitter clinical testing The c.479+5G>T intronic alteration consists of a G to T substitution 5 nucleotides after exon 4 (coding exon 3) in the AARS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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