ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)

gnomAD frequency: 0.00003  dbSNP: rs267606718
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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 RCV000000073 SCV000998514 likely pathogenic Microcephaly 9, primary, autosomal recessive criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390627 SCV004129836 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing CEP152: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003390627 SCV004297262 pathogenic not provided 2023-09-09 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: 56). This premature translational stop signal has been observed in individual(s) with CEP152-related conditions (PMID: 20598275). This variant is present in population databases (rs267606718, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg987*) 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).
OMIM RCV000000073 SCV000020216 pathogenic Microcephaly 9, primary, autosomal recessive 2010-07-09 no assertion criteria provided literature only

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