ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) (rs751491210)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718700 SCV000849564 uncertain significance History of neurodevelopmental disorder 2017-12-19 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001067967 SCV001233053 uncertain significance Pitt-Hopkins-like syndrome 1 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1193 of the CNTNAP2 protein (p.Ala1193Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs751491210, ExAC 0.02%). This variant has been observed in an individual affected with rolandic epilepsy (PMID: 29358611). This variant is also known as 148080842 in the literature. ClinVar contains an entry for this variant (Variation ID: 433107). 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: "Probably Damaging"; 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.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656010 SCV000588286 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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