ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.418G>A (p.Val140Ile) (rs373034150)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432571 SCV000240582 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing The V140I 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 with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The V140I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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.
Illumina Clinical Services Laboratory,Illumina RCV000345320 SCV000396332 uncertain significance Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432571 SCV000510794 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV000718148 SCV000849010 likely benign Seizures 2017-02-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Other data supporting benign classification

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