Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504207 | SCV000596078 | uncertain significance | not specified | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000792806 | SCV000932127 | uncertain significance | Pitt-Hopkins-like syndrome 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 107 of the NRXN1 protein (p.Thr107Met). This variant is present in population databases (rs368549770, gnomAD 0.07%). 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: 436040). 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. |
Gene |
RCV001755746 | SCV002007259 | uncertain significance | not provided | 2021-07-14 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; 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; This variant is associated with the following publications: (PMID: 19896112, 21424692, 27535533) |