ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3082+1G>C

dbSNP: rs886041709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000294377 SCV000330442 pathogenic not provided 2016-04-21 criteria provided, single submitter clinical testing The c.3082+1 G>C splice site variant in the ASPM gene destroys the canonical splice donor site in intron 11. It ispredicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediatedmRNA decay, or to an abnormal protein product if the message is used for protein truncation. Although c.3082+1G>C has not been reported previously to our knowledge, it is expected to be a pathogenic variant.
Cirak Lab, University Hospital Cologne RCV000855492 SCV000996622 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002503977 SCV002813941 pathogenic Microcephaly 5, primary, autosomal recessive 2022-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002503977 SCV004172577 likely pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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