ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)

gnomAD frequency: 0.00021  dbSNP: rs188955444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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, Murdoch Childrens Research Institute 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).

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