ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.773-12_773-9del

dbSNP: rs863224241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200786 SCV000252416 uncertain significance not specified 2014-03-04 criteria provided, single submitter clinical testing c.773-12_773-9delGTCT: IVS7-12_IVS-9delGTCT in intron 7 of the TRMU gene (NM_018006.4). The normal sequence with the bases that are deleted in braces is: aact{gtct}ttct. The c.773-12_773-9delGTCT variant of unknown significance identified in the TRMU gene 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.773-12_773-9delGTCT may damage the normal splice acceptor site in intron 7, which would be expected to lead to abnormal gene splicing. However, the true effect of c.773-12_773-9delGTCT on splicing in vivo is not known. 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).
Invitae RCV002517267 SCV003444202 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274267 SCV001458231 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-09-16 no assertion criteria provided clinical testing

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