ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.860G>T (p.Ser287Ile)

dbSNP: rs140716136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798620 SCV000938245 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2020-02-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with isoleucine at codon 287 of the CNTNAP2 protein (p.Ser287Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine.
Ambry Genetics RCV004972961 SCV005556444 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.860G>T (p.S287I) alteration is located in exon 6 (coding exon 6) of the CNTNAP2 gene. This alteration results from a G to T substitution at nucleotide position 860, causing the serine (S) at amino acid position 287 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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