ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.864+1G>T (rs727503119)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150912 SCV000198521 pathogenic Danon disease 2013-10-08 criteria provided, single submitter clinical testing The 864+1G>T variant in LAMP2 has now been identified by our laboratory as a de novo variant in a teenage female with HCM and LV dilation. This variant occurs i n the invariant region (+/- 1,2) of the splice consensus sequence and is predict ed to cause altered splicing leading to an abnormal or absent protein. Loss of f unction of the LAMP2 gene is associated with Danon disease, an X-linked glycogen storage disease that includes cardiomyopathy (HCM and DCM) and skeletal myopath y (Boucek 2011). In summary, this variant meets our criteria to be classified as pathogenic ( based upon predicted impact of the v ariant.
GeneDx RCV000157972 SCV000207907 pathogenic not provided 2013-08-27 criteria provided, single submitter clinical testing c.864+1 G>T: IVS6+1 G>T in intron 6 of the LAMP2 gene (NM_002294.2). Although the c.864+1 G>A mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice donor site in intron 6 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the LAMP2 gene have been reported in association with Danon disease. In summary, c.864+1 G>A in the LAMP2 gene is interpreted as a disease-causing mutation. The variant is found in HCM panel(s).

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