ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) (rs771028883)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733910 SCV000240842 uncertain significance not provided 2014-07-31 criteria provided, single submitter clinical testing p.Thr218Met (ACG>ATG): c.653 C>T in exon 5 of the CNTNAP2 gene (NM_014141.5). The T218M variant has not been published as a mutation, nor has it been reported as a benign polymorphism 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 T218M 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 occurs at a position that is conserved across species. 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 mutation or a rare benign variant. The variant is found in CHILD-EPI,INFANT-EPI panel(s).
Genetic Services Laboratory, University of Chicago RCV000187260 SCV000247070 uncertain significance not specified 2015-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718406 SCV000849269 uncertain significance History of neurodevelopmental disorder 2017-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733910 SCV000862015 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764697 SCV000895831 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2018-10-31 criteria provided, single submitter clinical testing

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