ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) (rs371839994)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187174 SCV000240754 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000187174 SCV000247051 uncertain significance not specified 2015-08-03 criteria provided, single submitter clinical testing
Invitae RCV000227817 SCV000289924 likely benign Pitt-Hopkins-like syndrome 1 2020-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515191 SCV000611461 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718421 SCV000849284 uncertain significance History of neurodevelopmental disorder 2018-01-29 criteria provided, single submitter clinical testing The p.S382N variant (also known as c.1145G>A), located in coding exon 8 of the CNTNAP2 gene, results from a G to A substitution at nucleotide position 1145. The serine at codon 382 is replaced by asparagine, an amino acid with highly similar properties. This alteration was detected in one White-Hispanic control subject in a case-control study of 635 patients with autism spectrum disorder and 942 controls (Bakkaloglu B et al. Am. J. Hum. Genet., 2008 Jan;82:165-73) and one Brazilian patient in a case-control study of 602 unrelated cases with familial persistent developmental stuttering compared to a matched group of 487 well characterized neurologically normal controls (Han TU et al. Neurobiol. Dis., 2014 Sep;69:23-31). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000187174 SCV000856758 likely benign not specified 2017-09-28 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000515191 SCV000898622 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2018-01-11 criteria provided, single submitter clinical testing CNTNAP2 NM_014141.5 exon 8 p.Ser382Asn (c.1145G>A): This variant has not been reported in the literature but is is present in 0.7% (220/34350) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs371839994). This variant is present in ClinVar (Variation ID:205233). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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