ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) (rs146225600)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116781 SCV000150762 uncertain significance not provided 2014-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000187159 SCV000240737 uncertain significance not specified 2017-08-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The L1065I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1065I variant is observed in 44/10,330 (0.4%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1065I 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 Leucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116781 SCV000334951 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187159 SCV000612860 uncertain significance not specified 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716338 SCV000847178 uncertain significance History of neurodevelopmental disorder 2018-06-26 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001079431 SCV001001875 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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