Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002289264 | SCV002579885 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2022-08-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003097774 | SCV003490755 | uncertain significance | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 502 of the ASPM protein (p.Ala502Gly). This variant is present in population databases (rs140410863, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1709449). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ASPM protein function with a negative predictive value of 80%. 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. |
Genome- |
RCV002289264 | SCV004178758 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004047606 | SCV004910675 | uncertain significance | Inborn genetic diseases | 2023-10-02 | criteria provided, single submitter | clinical testing | The c.1505C>G (p.A502G) alteration is located in exon 3 (coding exon 3) of the ASPM gene. This alteration results from a C to G substitution at nucleotide position 1505, causing the alanine (A) at amino acid position 502 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |