ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.640G>T (p.Val214Leu) (rs765491294)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485231 SCV000570564 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CLN6 gene. The V214L variant has not been publishedas a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The V214L variant is a conservativeamino acid substitution, which is not likely to impact secondary protein structure as these residues share similarproperties. This substitution occurs at a position where amino acids with similar properties to Valine are toleratedacross species. In silico analysis predicts this variant likely does not alter the protein structure/function. Based on thecurrently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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