ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)

gnomAD frequency: 0.00001  dbSNP: rs186530606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574228 SCV001801008 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing Nonsense 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); This variant is associated with the following publications: (PMID: 30214071)
Labcorp Genetics (formerly Invitae), Labcorp RCV001574228 SCV003281006 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg908*) in the CEP135 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP135 are known to be pathogenic (PMID: 22521416, 26657937). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with congenital microcephaly (PMID: 30214071). ClinVar contains an entry for this variant (Variation ID: 982087). For these reasons, this variant has been classified as Pathogenic.
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261593 SCV001438866 pathogenic Microcephaly 8, primary, autosomal recessive no assertion criteria provided clinical testing

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