ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu)

dbSNP: rs368487049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475995 SCV000553437 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 171 of the CNTNAP2 protein (p.Arg171Leu). This variant is present in population databases (rs368487049, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 205307). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002317088 SCV000850884 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.512G>T (p.R171L) alteration is located in exon 4 (coding exon 4) of the CNTNAP2 gene. This alteration results from a G to T substitution at nucleotide position 512, causing the arginine (R) at amino acid position 171 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003542290 SCV004244594 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing No Rules Apply

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