ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.814-2A>G (rs879254029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236814 SCV000293223 likely pathogenic not provided 2015-10-09 criteria provided, single submitter clinical testing A novel c.814-2 A>G variant that is likely pathogenic has been identified in the BSCL2 gene. The c.814-2 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.814-2 A>G variant destroys the canonical splice acceptor site of intron 7 and is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761469 SCV000891575 pathogenic Congenital generalized lipodystrophy type 2 2017-12-30 criteria provided, single submitter curation

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