ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)

dbSNP: rs1451306414
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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 RCV001331025 SCV001522931 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].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863234 SCV002221775 pathogenic not provided 2021-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2332*) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 20679666). ClinVar contains an entry for this variant (Variation ID: 1029675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001331025 SCV004178592 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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