ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.986-14T>G (rs863224211)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198933 SCV000252295 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing c.985-14 T>G: IVS8-14 T>G in intron 8 of the SLC37A4 gene (NM_001164277.1) The c.985-14 T>G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Several in-silico splice prediction models predict that c.985-14 T>G damages the natural splice acceptor site in intron 8 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. 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).
Counsyl RCV000668559 SCV000793181 uncertain significance Glucose-6-phosphate transport defect 2017-07-31 criteria provided, single submitter clinical testing

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