ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.1163C>T (p.Ala388Val) (rs148514847)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723989 SCV000226238 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000723989 SCV000571239 uncertain significance not provided 2017-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CLN3 gene. The A388V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A388V variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or the 1000 Genomes Project. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A388V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV000717912 SCV000848772 uncertain significance Seizures 2018-02-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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