ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569496 SCV001793587 pathogenic not provided 2022-02-10 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32643282)
Revvity Omics, Revvity RCV001255738 SCV003823159 likely pathogenic Microcephaly 8, primary, autosomal recessive 2021-11-15 criteria provided, single submitter clinical testing
Invitae RCV001569496 SCV004523571 pathogenic not provided 2023-04-26 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: 977828). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 32643282). This variant is present in population databases (rs200676378, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Lys1071*) 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).
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255738 SCV001432312 likely pathogenic Microcephaly 8, primary, autosomal recessive no assertion criteria provided clinical testing

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