ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)

gnomAD frequency: 0.00004  dbSNP: rs140602858
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000020773 SCV000192164 pathogenic Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000020773 SCV001522645 pathogenic Microcephaly 5, primary, autosomal recessive 2020-01-16 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001384736 SCV001584372 pathogenic not provided 2021-12-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs140602858, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 21583). This premature translational stop signal has been observed in individuals with autosomal recessive primary microcephaly (PMID: 14574646, 23611254). This sequence change creates a premature translational stop signal (p.Arg1271*) 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 RCV000020773 SCV004178693 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
GeneReviews RCV000020773 SCV000041353 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001384736 SCV001931055 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001384736 SCV001952261 pathogenic not provided no assertion criteria provided clinical testing

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