ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln)

gnomAD frequency: 0.00020  dbSNP: rs148245202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000194024 SCV000249567 likely benign Microcephaly 5, primary, autosomal recessive 2017-12-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp 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.
GeneDx RCV001853124 SCV002504296 likely benign not provided 2019-11-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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