ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile)

gnomAD frequency: 0.00001  dbSNP: rs766146033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710624 SCV000840870 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710624 SCV002293828 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 585442). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. This variant is present in population databases (rs766146033, ExAC 0.01%). This sequence change replaces arginine with isoleucine at codon 601 of the ASPM protein (p.Arg601Ile). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and isoleucine.
Genome-Nilou Lab RCV003453511 SCV004178746 uncertain significance Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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