ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly)

gnomAD frequency: 0.00002  dbSNP: rs373818179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769286 SCV002003439 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001769286 SCV002298704 uncertain significance not provided 2021-05-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ASPM-related conditions. This sequence change replaces arginine with glycine at codon 2279 of the ASPM protein (p.Arg2279Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs373818179, ExAC 0.002%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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-Nilou Lab RCV003451904 SCV004178599 uncertain significance Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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