ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) (rs147623032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187089 SCV000240664 uncertain significance not provided 2014-07-31 criteria provided, single submitter clinical testing p.Asp46Asn (GAC>AAC): c.136 G>A in exon 2 of the CLN6 gene (NM_017882.2). The D46N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The D46N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. Missense mutations in nearby residues (L47F; R62C) have been reported in association with neuronal ceroid lipofuscinosis, supporting the functional importance of this region of the protein. However, in silico analysis is inconsistent in its predictions as to whether or not the D46N variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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