ClinVar Miner

Submissions for variant NM_001182.4(ALDH7A1):c.1493_1495delGAG (p.Gly498del) (rs796052268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720202 SCV000851079 uncertain significance Seizures 2016-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000186758 SCV000240325 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing The c.1493_1495delGAG variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single Glycine residue at a highly conserved position in the protein. Missense variants have been reported in nearby residues (G494R, A495T), supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether c.1493_1495delGAG is a pathogenic variant or a rare benign variant.

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