ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.2290C>T (p.Arg764Cys)

gnomAD frequency: 0.00001  dbSNP: rs761805324
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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 RCV001862113 SCV002168691 uncertain significance not provided 2022-07-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 590914). This missense change has been observed in individual(s) with CNTNAP1-related conditions (PMID: 27818385, 28374019). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs761805324, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 764 of the CNTNAP1 protein (p.Arg764Cys).
OMIM RCV000722096 SCV000853282 pathogenic Neuropathy, congenital hypomyelinating, 3 2018-11-28 no assertion criteria provided literature only

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