Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000194024 | SCV000249567 | likely benign | Microcephaly 5, primary, autosomal recessive | 2017-12-05 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV001853124 | SCV002264676 | uncertain significance | not provided | 2022-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2853 of the ASPM protein (p.Arg2853Gln). This variant is present in population databases (rs148245202, gnomAD 0.02%). This missense change has been observed in individual(s) with ASPM-related conditions (PMID: 28554332). ClinVar contains an entry for this variant (Variation ID: 212722). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 |
RCV001853124 | SCV002504296 | likely benign | not provided | 2019-11-06 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |