ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.3218G>A (p.Arg1073His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002510003 SCV002818702 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002510003 SCV003512064 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CNTNAP1-related conditions. This variant is present in population databases (rs773813371, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1073 of the CNTNAP1 protein (p.Arg1073His). 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"). 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 RCV002571574 SCV003736167 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.3218G>A (p.R1073H) alteration is located in exon 19 (coding exon 19) of the CNTNAP1 gene. This alteration results from a G to A substitution at nucleotide position 3218, causing the arginine (R) at amino acid position 1073 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004763427 SCV005373883 uncertain significance Neuropathy, congenital hypomyelinating, 3 2024-09-22 criteria provided, single submitter clinical testing

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