ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.322C>G (p.Leu108Val) (rs796052353)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187095 SCV000240670 uncertain significance not provided 2013-02-27 criteria provided, single submitter clinical testing p.Leu108Val (CTG>GTG): c.322 C>G in exon 4 in the CLN6 gene (NM_017882.2). The L108V variant in the CLN6 gene has not been reported previously as a disease causing mutation nor as a benign polymorphism, to our knowledge. The L108V variant 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. L108V alters a highly conserved position in the interacellular loop between the second and third transmembrane domains of the CLN6 protein. In addition, in silico analysis predicts this variant may be damaging to the structure/function of the protein. However, the amino acid substitution is conservative as both Leucine and Valine are uncharged, non-polar amino acid residues. We interpret L108V as a variant of unknown significance. This variant has been seen to be maternally inhertited. The variant is found in INFANT-EPI,CHILD-EPI panel(s).

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