Submissions for variant NM_001605.3(AARS1):c.600C>T (p.Ala200=)

gnomAD frequency: 0.00056  dbSNP: rs150080663

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000658751	SCV000231012	uncertain significance	not provided	2014-11-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079599	SCV000253371	likely benign	Charcot-Marie-Tooth disease type 2	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658751	SCV000780540	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	AARS1: BP4, BP7
Illumina Laboratory Services, Illumina	RCV001115372	SCV001273343	likely benign	Charcot-Marie-Tooth disease axonal type 2N	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000658751	SCV001841483	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002460956	SCV002755308	likely benign	Inborn genetic diseases	2019-07-11	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.