Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454190 | SCV000537933 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | ||
Invitae | RCV002526372 | SCV003440420 | uncertain significance | not provided | 2023-08-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs759222737, gnomAD 0.007%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 402156). This missense change has been observed in individual(s) with motor neuron disease (PMID: 26539891). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 471 of the DSCAML1 protein (p.Val471Ile). |