Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597987 | SCV000704907 | uncertain significance | not provided | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000597987 | SCV001039507 | likely benign | not provided | 2023-11-12 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
RCV002470922 | SCV002768648 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2019-08-28 | criteria provided, single submitter | clinical testing | A heterozygous missense variant, NM_018136.4(ASPM):c.8452G>T, has been identified in exon 18 of 28 of the ASPM gene. The variant is predicted to result in a moderate amino acid change from alanine to serine at position 2818 of the protein (NP_060606.3(ASPM):p.(Ala2818Ser)). The alanine residue at this position has low conservation (100 vertebrates, UCSC), but is not located within a well established functional domain. In silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD database at a frequency of 0.05% (153 heterozygotes, 0 homozygotes) and has been previously described as a variant of uncertain significance (ClinVar). Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS). |