ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1948G>A (p.Asp650Asn)

dbSNP: rs202137841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214546 SCV001386231 uncertain significance Pitt-Hopkins-like syndrome 2 2023-08-17 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 944195). 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 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 690 of the NRXN1 protein (p.Asp690Asn).
GeneDx RCV001562222 SCV001784956 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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