ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)

gnomAD frequency: 0.00001  dbSNP: rs77424753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331028 SCV001522934 pathogenic Microcephaly 5, primary, autosomal recessive 2020-10-16 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001384735 SCV001584371 pathogenic not provided 2022-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1029678). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. This variant is present in population databases (rs77424753, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Trp3220*) in the ASPM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASPM are known to be pathogenic (PMID: 19028728, 23611254).
Genome-Nilou Lab RCV001331028 SCV004177541 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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