ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.1699G>A (p.Glu567Lys)

gnomAD frequency: 0.00003  dbSNP: rs779992820
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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 RCV002050689 SCV002114752 uncertain significance not provided 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 567 of the CNTNAP1 protein (p.Glu567Lys). This variant is present in population databases (rs779992820, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CNTNAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1347833). 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 C15"). 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.
3billion RCV004728851 SCV005328855 likely benign Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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