Submissions for variant NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)

gnomAD frequency: 0.00591  dbSNP: rs148355156

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204958	SCV000259728	benign	Charcot-Marie-Tooth disease type 2	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000509259	SCV000398666	benign	Charcot-Marie-Tooth disease axonal type 2N	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000143803	SCV000575058	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	AARS1: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000509259	SCV000743758	likely benign	Charcot-Marie-Tooth disease axonal type 2N	2016-04-06	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000736083	SCV000864348	likely benign	not specified	2017-03-06	criteria provided, single submitter	clinical testing	BS1, BP4, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Mendelics	RCV000509259	SCV001135087	likely benign	Charcot-Marie-Tooth disease axonal type 2N	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000143803	SCV001157286	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000143803	SCV001833236	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000143803	SCV005219089	likely benign	not provided		criteria provided, single submitter	not provided
Northcott Neuroscience Laboratory, ANZAC Research Institute	RCV000143803	SCV000188696	non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Benign.
GenomeConnect, ClinGen	RCV000509259	SCV000607057	not provided	Charcot-Marie-Tooth disease axonal type 2N		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000143803	SCV001797941	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000736083	SCV001922543	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000143803	SCV001971775	likely benign	not provided		no assertion criteria provided	clinical testing