ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2567G>A (p.Arg856Gln)

gnomAD frequency: 0.00002  dbSNP: rs200249774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174863 SCV000226249 uncertain significance not provided 2014-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000174863 SCV001793032 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001852132 SCV002220013 uncertain significance Pitt-Hopkins-like syndrome 2 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 896 of the NRXN1 protein (p.Arg896Gln). This variant is present in population databases (rs200249774, gnomAD 0.004%). 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: 194484). 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. 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.

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