ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.571+7C>T (rs863223523)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196189 SCV000250059 uncertain significance not provided 2015-06-15 criteria provided, single submitter clinical testing The c.571+7 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.571+7 C>T variant 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. Several in-silico splice prediction tools predict that c.571+7 C>T creates a cryptic splice donor site, which may supplant the natural donor site and 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. This variant was found in ELN

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