Submissions for variant NM_020320.5(RARS2):c.772-3del

dbSNP: rs368859792

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001556648	SCV001778265	likely benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001556648	SCV004277853	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000196463	SCV000252176	uncertain significance	not specified	2013-05-24	flagged submission	clinical testing	c.772-3delT: IVS9-3delT in intron 9 of the RARS2 gene (NM_020320.3) A variant of unknown significance has been identified in the RARS2 gene. The c.772-3delT sequence change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. In-silico splice prediction models predict that c.772-3delT decreases the efficiency of the natural splice acceptor site in intron 9, which may lead to abnormal gene splicing. However, the true effect on splicing in vivo is not known. Therefore, based on the currently available information, it is unclear whether c.772-3delT is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc.	RCV001273125	SCV001455728	uncertain significance	Pontocerebellar hypoplasia type 6	2020-01-17	no assertion criteria provided	clinical testing