ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)

dbSNP: rs147580372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002460568 SCV002755969 uncertain significance Inborn genetic diseases 2023-07-06 criteria provided, single submitter clinical testing The c.1171C>A (p.R391S) alteration is located in exon 9 (coding exon 8) of the AARS gene. This alteration results from a C to A substitution at nucleotide position 1171, causing the arginine (R) at amino acid position 391 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103069 SCV003028696 likely benign Charcot-Marie-Tooth disease type 2 2024-04-08 criteria provided, single submitter clinical testing

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