ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) (rs1064794559)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478612 SCV000569437 uncertain significance not provided 2016-03-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CLN6 gene. The P209S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P209S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size, and/or other properties. This substitution alters a position predicted to be within the transmembrane domain of the CLN6 protein; however, this position is not conserved. Additionally, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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