ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.2052+6_2052+7delinsAG (rs1057518277)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413011 SCV000491775 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing The c.2052+6_2052+7delTCinsAG variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 14, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.2052+6_2052+7delTCinsAG in this individual is unknown. The c.2052+6_2052+7delTCinsAG 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. We interpret c.2052+6_2052+7delTCinsAG as a variant of uncertain significance.

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