ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.772-4_772-3del

dbSNP: rs368859792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197657 SCV000252177 uncertain significance not specified 2014-09-15 criteria provided, single submitter clinical testing c.772-4_772-3delTT: IVS9-4_-3delTT in intron 9 of the RARS2 gene (NM_020320.3). The normal sequence with the bases that are deleted in braces is: tctt{tt}agCG with the exonic bases in upper case and the intronic bases in lower case. A variant of unknown significance has been identified in the RARS2 gene. The c.772-4_-3delTT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. In silico analysis predicts this variant may damage or destroy the natural splice acceptor site in intron 9 leading to abnormal splicing. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002517255 SCV003282059 likely benign not provided 2024-03-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833151 SCV002079905 uncertain significance Pontocerebellar hypoplasia type 6 2019-11-11 no assertion criteria provided clinical testing

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