Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000519744 | SCV000616600 | uncertain significance | Pitt-Hopkins-like syndrome 2 | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000519744 | SCV000959804 | uncertain significance | Pitt-Hopkins-like syndrome 2 | 2022-08-21 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 206247). This missense change has been observed in individual(s) with neurodevelopmental disorder (PMID: 33004838). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 895 of the NRXN1 protein (p.Arg895Gln). |