Submissions for variant NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)

gnomAD frequency: 0.00089  dbSNP: rs143722284

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000601238	SCV000728957	likely benign	not specified	2017-11-17	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	RCV000144956	SCV001061200	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Mendelics	RCV000986556	SCV001135575	likely benign	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000144956	SCV002585181	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	IARS2: BS2
Samuels research lab, Centre de Recherche du CHU Ste-Justine	RCV000144717	SCV000190696	pathogenic	Leigh syndrome	2014-04-01	no assertion criteria provided	research
OMIM	RCV000144956	SCV000191973	uncertain significance	not provided	2014-11-01	no assertion criteria provided	literature only