ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) (rs138081804)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000143804 SCV000294167 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing Reported in individuals with Charcot-Marie-Tooth disease; however it was also identified in 2/1090 normal control chromosomes (McLaughlin et al., 2012); Reported as a variant of uncertain significance in an individual with CMT2; the patient was also found to have a variant in another gene and it was unclear if either variant was causative for the patient's phenotype (Lupo et al., 2016); Reported in an individual with axonal neuropathy; the R729W variant does not segregate with disease in the family as it was observed in both affected and unaffected family members and was absent in affected family members, and the patient was also found to have a variant in another gene that appears to segregate with disease in the family (Lupo et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30642740, 22009580, 26752306)
Invitae RCV001086355 SCV000553783 likely benign Charcot-Marie-Tooth disease, type 2 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000143804 SCV000608770 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000143804 SCV000611067 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV000999712 SCV001156499 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001121845 SCV001280498 benign Charcot-Marie-Tooth disease, type 2N 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287479 SCV001474172 likely benign none provided 2020-04-10 criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143804 SCV000188697 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000143804 SCV001741092 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000143804 SCV001918414 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000143804 SCV001928775 likely benign not provided no assertion criteria provided clinical testing

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