ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1737C>G (p.Ile579Met)

dbSNP: rs144323646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863429 SCV001004090 likely benign Charcot-Marie-Tooth disease type 2 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002462199 SCV002755931 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.1737C>G (p.I579M) alteration is located in exon 13 (coding exon 12) of the AARS gene. This alteration results from a C to G substitution at nucleotide position 1737, causing the isoleucine (I) at amino acid position 579 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004705805 SCV005219088 likely benign not provided criteria provided, single submitter not provided

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