Submissions for variant NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)

gnomAD frequency: 0.00004  dbSNP: rs374378925

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235889	SCV000293674	likely benign	not provided	2020-07-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002461033	SCV002755202	uncertain significance	Inborn genetic diseases	2021-05-18	criteria provided, single submitter	clinical testing	The p.M585T variant (also known as c.1754T>C), located in coding exon 14 of the GARS gene, results from a T to C substitution at nucleotide position 1754. The methionine at codon 585 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV002518450	SCV003271211	likely benign	Charcot-Marie-Tooth disease type 2	2023-10-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000235889	SCV004163877	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing
Genesis Genome Database	RCV000857180	SCV000999762	uncertain significance	Charcot-Marie-Tooth disease	2019-08-14	no assertion criteria provided	research