Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001368077 | SCV001564455 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The glutamine 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: 574171). This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%), including at least one homozygous and/or hemizygous individual. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 836 of the NEXMIF protein (p.His836Gln). |
Fulgent Genetics, |
RCV000696031 | SCV002776007 | uncertain significance | X-linked intellectual disability, Cantagrel type | 2021-11-17 | criteria provided, single submitter | clinical testing |