ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.68_69insAGA (p.Glu29dup) (rs1553396148)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519475 SCV000618340 uncertain significance not specified 2017-09-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The c.68_69insAGA variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.68_69insAGA variant results in the insertion of a glutamic acid (E) residue, denoted p.Glu29_Ala30insE. However, this residue is inserted in a region of glutamic acid repeats.

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