Submissions for variant NM_002047.4(GARS1):c.-6A>G

gnomAD frequency: 0.00002  dbSNP: rs747409671

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000615282	SCV000715899	likely benign	not specified	2017-02-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001327334	SCV001518402	uncertain significance	Charcot-Marie-Tooth disease type 2	2014-07-24	criteria provided, single submitter	clinical testing	There is no evidence to indicate that this sequence change is pathogenic. It is possible that this sequence change represents a benign polymorphism in the GARS gene, although at this time the evidence is insufficient to prove that conclusively. This sequence change does not fit the missense-only mutation spectrum of the GARS gene. This sequence change falls in the 5'UTR of the GARS gene. It does not change the protein sequence and is not predicted to affect splicing, but this prediction has not been confirmed by functional studies. This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population.