ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1693G>A (p.Ala565Thr)

gnomAD frequency: 0.00001  dbSNP: rs896061877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235535 SCV001408225 uncertain significance Pitt-Hopkins-like syndrome 2 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 605 of the NRXN1 protein (p.Ala605Thr). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 961777). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).

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