ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly)

gnomAD frequency: 0.00001  dbSNP: rs200009780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188288 SCV000241899 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000792500 SCV000931803 uncertain significance Pitt-Hopkins-like syndrome 2 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 247 of the NRXN1 protein (p.Arg247Gly). This variant is present in population databases (rs200009780, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 206257). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Diagnostic Laboratory, Strasbourg University Hospital RCV001257611 SCV001434421 uncertain significance Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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