ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala)

gnomAD frequency: 0.00007  dbSNP: rs542967760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784154 SCV002025690 uncertain significance Microcephaly 5, primary, autosomal recessive 2020-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885196 SCV002207166 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 3311 of the ASPM protein (p.Pro3311Ala). This variant is present in population databases (rs542967760, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1325567). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV001784154 SCV004177534 uncertain significance Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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