ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)

dbSNP: rs796052340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187037 SCV000240610 uncertain significance not specified 2013-06-05 criteria provided, single submitter clinical testing c.731_733delAAG: p.Glu244del (E244del) in exon 10 of the CLN3 gene (NM_001042432.1). The c.731_733delAAG has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single poorly conserved amino acid residue, Glu244, which is located in the cytoplasmic loop between the fourth and fifth transmembrane domains. Therefore, based on the currently available information, it is unclear whether c.731_733delAAG is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Counsyl RCV000665327 SCV000789429 uncertain significance Neuronal ceroid lipofuscinosis 3 2017-01-31 criteria provided, single submitter clinical testing

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