ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1727_1728delinsCTAGT (p.His576delinsProSer) (rs1064795650)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487174 SCV000571652 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing The c.1727_1728delACinsCTAGT variant in the ALMS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1727_1728delACinsCTAGT variant results in an in-frame deletion of Histidine 576 and insertion of Proline and Serine, denoted p.His576delinsProSer. The c.1727_1728delACinsCTAGT variant was not observed in approximately 6,000 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.1727_1728delACinsCTAGT as a variant of uncertain significance.

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