ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3855+4A>C (rs1554021100)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497663 SCV000589457 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing The c.3855+4 A>C splice site variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism 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. In silico models predict that c.3855+4 A>C damages the natural splice donor site in intron 16 and may cause abnormal splicing. However, in the absence of RNA/functional studies, the actual effect of the c.3855+4 A>C sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or rare benign variant.

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