ClinVar Miner

Submissions for variant NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)

gnomAD frequency: 0.00003  dbSNP: rs724159996
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384442 SCV001583940 pathogenic not provided 2022-11-24 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: 162401). This premature translational stop signal has been observed in individuals with Seckel syndrome (PMID: 25320347, 25344692). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs724159996, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Phe433Leufs*6) in the PLK4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLK4 are known to be pathogenic (PMID: 25320347, 30842647).
GeneDx RCV001384442 SCV003930558 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 25320347, 25344692, 32552793, 30214071, 33756487)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000149796 SCV005374029 pathogenic Microcephaly and chorioretinopathy 2 2024-09-22 criteria provided, single submitter clinical testing
OMIM RCV000149796 SCV000196605 pathogenic Microcephaly and chorioretinopathy 2 2014-12-01 no assertion criteria provided literature only
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000149796 SCV001432382 pathogenic Microcephaly and chorioretinopathy 2 no assertion criteria provided clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV000149796 SCV003927808 pathogenic Microcephaly and chorioretinopathy 2 2023-04-01 no assertion criteria provided clinical testing

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