ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.357C>G (p.Ile119Met) (rs141950483)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187096 SCV000240671 uncertain significance not provided 2013-12-09 criteria provided, single submitter clinical testing p.Ile119Met (ATC>ATG): c.357 C>G in exon 4 of the CLN6 gene (NM_017882.2). The Ile119Met missense change in the CLN6 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is not conserved across species. In silico analysis predicts this variant is likely benign. However, other missense mutations associated with neuronal ceroid lipofuscinosis have been reported in this region of the protein. Therefore, based on the currently available information, it is unclear whether Ile119Met is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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