ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.974del (p.Cys325fs)

gnomAD frequency: 0.00001  dbSNP: rs766853150
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090890 SCV001246652 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000024110 SCV001437201 pathogenic Brittle cornea syndrome 2 2020-08-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000024110 SCV001976994 pathogenic Brittle cornea syndrome 2 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276571 SCV002566072 pathogenic Ehlers-Danlos syndrome 2021-04-20 criteria provided, single submitter clinical testing
Invitae RCV001090890 SCV003525528 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys325Leufs*2) in the PRDM5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRDM5 are known to be pathogenic (PMID: 21664999, 26395458). This variant is present in population databases (rs766853150, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with brittle cornea syndrome (PMID: 21664999, 33739556). ClinVar contains an entry for this variant (Variation ID: 31114). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024110 SCV000045401 pathogenic Brittle cornea syndrome 2 2011-06-10 no assertion criteria provided literature only

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