Submissions for variant NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)

gnomAD frequency: 0.00971  dbSNP: rs35744709

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204138	SCV000261504	benign	Charcot-Marie-Tooth disease type 2	2025-02-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625089	SCV000398648	benign	Charcot-Marie-Tooth disease axonal type 2N	2018-01-13	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625089	SCV000743755	likely benign	Charcot-Marie-Tooth disease axonal type 2N	2014-10-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706199	SCV001159126	benign	not provided	2024-09-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001706199	SCV001882132	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706199	SCV002545808	benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	AARS1: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002500655	SCV002805119	likely benign	Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive	2021-08-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706199	SCV005219082	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699156	SCV001923732	benign	not specified		no assertion criteria provided	clinical testing