ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1552T>G (p.Leu518Val)

dbSNP: rs569617213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003621026 SCV004432616 uncertain significance Pitt-Hopkins-like syndrome 2 2023-01-28 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NRXN1 protein function. 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. This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 558 of the NRXN1 protein (p.Leu558Val). This variant is present in population databases (rs569617213, gnomAD 0.007%).

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