ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.755G>A (p.Arg252His) (rs374681194)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187105 SCV000240680 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Previously reported two patients with suspected neuronal ceroid lipofuscinosis (NCL); the first patient also had a frameshift variant in CLN6; however, phase was unknown and functional/EM studies were not performed; the second patient did not have a second CLN6 variant clearly identified but EM studies were consistent with the diagnosis of NCL (Kousi et al., 2012); This variant is associated with the following publications: (PMID: 21990111)
Counsyl RCV000671648 SCV000796641 uncertain significance Neuronal ceroid lipofuscinosis 6 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV001083020 SCV001003471 likely benign Neuronal ceroid lipofuscinosis 2020-12-07 criteria provided, single submitter clinical testing
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism RCV000671648 SCV000804310 pathogenic Neuronal ceroid lipofuscinosis 6 no assertion criteria provided research Late Infantile NCL

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