Submissions for variant NM_001605.3(AARS1):c.1672-4T>A

gnomAD frequency: 0.00236  dbSNP: rs187509039

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000197414	SCV000252766	benign	Charcot-Marie-Tooth disease type 2	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094241	SCV000398667	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	RCV000487524	SCV000575059	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	AARS1: BP4, BS2
Eurofins Ntd Llc (ga)	RCV000593610	SCV000700972	benign	not specified	2017-04-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000487524	SCV001841166	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002460979	SCV002755336	likely benign	Inborn genetic diseases	2019-08-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002500617	SCV002813728	likely benign	Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive	2022-05-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000487524	SCV003800065	benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000487524	SCV005219090	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000593610	SCV001920237	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000487524	SCV001928604	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000487524	SCV001962978	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487524	SCV001972626	likely benign	not provided		no assertion criteria provided	clinical testing