ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.3249del (p.Val1084fs)

gnomAD frequency: 0.00010  dbSNP: rs754267846
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598758 SCV000710219 likely pathogenic not provided 2022-06-09 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Observed in a patient with primary microcephaly with a second CEP152 variant but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Duerinckx et al., 2021); This variant is associated with the following publications: (PMID: 31589614, 34402213)
Invitae RCV000598758 SCV002234680 pathogenic not provided 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1084Cysfs*7) in the CEP152 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP152 are known to be pathogenic (PMID: 21131973). This variant is present in population databases (rs754267846, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with CEP152-related conditions (PMID: 34402213). ClinVar contains an entry for this variant (Variation ID: 503918). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003420052 SCV004109512 pathogenic CEP152-related condition 2023-02-24 criteria provided, single submitter clinical testing The CEP152 c.3249delT variant is predicted to result in a frameshift and premature protein termination (p.Val1084Cysfs*7). This variant was reported in a patient with primary microcephaly (Duerinckx et al. 2021. PubMed ID: 34402213). This variant is reported in 0.012% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-49048195-CA-C). Frameshift variants in CEP152 are expected to be pathogenic. This variant is interpreted as pathogenic.
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001507255 SCV001481947 likely pathogenic Microcephaly 9, primary, autosomal recessive 2020-01-01 no assertion criteria provided clinical testing

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