ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)

dbSNP: rs199422137
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000235002 SCV000246580 pathogenic Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000219412 SCV000279281 pathogenic not provided 2023-10-31 criteria provided, single submitter clinical testing Reported previously using alternate nomenclature c.1152_1153delAG in the heterozygous state with a second ASPM variant an individual with congenital microcephaly, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 19028728); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 35568357, 37599996, 19028728)
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000235002 SCV001548196 pathogenic Microcephaly 5, primary, autosomal recessive criteria provided, single submitter research
Invitae RCV000219412 SCV002247050 pathogenic not provided 2022-09-16 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: 234465). This variant is also known as c.1152_1153delAG (p.Ser384fs). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 19028728). This variant is present in population databases (rs753424199, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Glu385Valfs*3) 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 RCV000235002 SCV004178769 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
GeneReviews RCV000235002 SCV000041318 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only

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