ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.827+5G>A

dbSNP: rs1557083956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412847 SCV000491763 likely pathogenic not provided 2016-11-11 criteria provided, single submitter clinical testing A novel c.830+5 G>A variant that is likely pathogenic has been identified in the WDR45 gene. The c.830+5 G>A 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. Several in-silico splice prediction models predict that c.830+5 G>A may destroy 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 in this individual is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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