ClinVar Miner

Submissions for variant NM_001330691.3(CEP78):c.534del (p.Lys179fs) (rs1057517695)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211520 SCV001383063 pathogenic not provided 2019-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys179Argfs*10) in the CEP78 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several families affected with inherited retinal disese (PMID: 27588452). ClinVar contains an entry for this variant (Variation ID: 372270). Loss-of-function variants in CEP78 are known to be pathogenic (PMID: 27588451, 27588452, 27627988). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000412648 SCV000490345 pathogenic Cone-rod dystrophy and hearing loss 1 2021-06-14 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002939 SCV001160974 pathogenic Sensorineural hearing loss; Cone-rod degeneration 2019-06-23 no assertion criteria provided research

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