ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)

dbSNP: rs770540184
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Total submissions: 4
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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 RCV001007666 SCV000998532 pathogenic Microcephaly 5, primary, autosomal recessive criteria provided, single submitter clinical testing
GeneDx RCV003128717 SCV003806235 pathogenic not provided 2022-08-25 criteria provided, single submitter clinical testing Observed in the heterozygous state with a second ASPM variant in a patient with ASPM-related primary microcephaly in published literature, however, it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Passemard et al., 2009); Not observed at significant frequency in large population cohorts (gnomAD); 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: 29431480, 20301772, 34402213, 31696992, 19808985, 19770472)
Genome-Nilou Lab RCV001007666 SCV004178605 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001007666 SCV001432359 likely pathogenic Microcephaly 5, primary, autosomal recessive no assertion criteria provided clinical testing

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