ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)

dbSNP: rs145489194
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV000005253 SCV000998531 pathogenic Microcephaly 5, primary, autosomal recessive criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851664 SCV002133105 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 4965). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 19770472, 31696992). This variant is present in population databases (rs145489194, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg797*) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000005253 SCV003817929 pathogenic Microcephaly 5, primary, autosomal recessive 2021-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000005253 SCV004178723 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000005253 SCV000025431 pathogenic Microcephaly 5, primary, autosomal recessive 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000005253 SCV000041332 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000005253 SCV001432354 pathogenic Microcephaly 5, primary, autosomal recessive no assertion criteria provided clinical testing

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