ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1546G>C (p.Val516Leu)

gnomAD frequency: 0.00006  dbSNP: rs143844046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443779 SCV000529278 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001299591 SCV001488688 likely benign Charcot-Marie-Tooth disease type 2 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522363 SCV003718775 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.1546G>C (p.V516L) alteration is located in exon 12 (coding exon 11) of the AARS gene. This alteration results from a G to C substitution at nucleotide position 1546, causing the valine (V) at amino acid position 516 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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