Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000656993 | SCV000227213 | uncertain significance | not provided | 2015-05-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000656993 | SCV000565686 | likely benign | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765689 | SCV000897031 | uncertain significance | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001035816 | SCV001199154 | uncertain significance | Pitt-Hopkins-like syndrome 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 90 of the NRXN1 protein (p.Gln90His). This variant is present in population databases (rs199960045, gnomAD 0.01%). 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: 195130). 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. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252019 | SCV002522775 | uncertain significance | See cases | 2021-08-13 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BP4 |
Ambry Genetics | RCV002426841 | SCV002741394 | uncertain significance | Inborn genetic diseases | 2018-04-19 | criteria provided, single submitter | clinical testing | The p.Q90H variant (also known as c.270G>T), located in coding exon 1 of the NRXN1 gene, results from a G to T substitution at nucleotide position 270. The glutamine at codon 90 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |