ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly)

gnomAD frequency: 0.00001  dbSNP: rs748684256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188264 SCV000241874 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Identified in a patient and the mother in the published literature; however, clinical information was not provided and functional studies of R88G was not performed in the study. In addition, this variant was also detected in 1 out of 190 individuals in their control population (Gauthier et al., 2011); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21424692)
Fulgent Genetics, Fulgent Genetics RCV000765690 SCV000897032 uncertain significance Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426909 SCV002743143 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.262C>G (p.R88G) alteration is located in exon 2 (coding exon 1) of the NRXN1 gene. This alteration results from a C to G substitution at nucleotide position 262, causing the arginine (R) at amino acid position 88 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003509510 SCV004315809 uncertain significance Pitt-Hopkins-like syndrome 2 2024-01-22 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 88 of the NRXN1 protein (p.Arg88Gly). This variant is present in population databases (rs748684256, gnomAD 0.006%). 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: 206235). 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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