ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) (rs1572829866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387748 SCV001588458 pathogenic not provided 2020-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys160*) in the PCARE 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 individual(s) with PCARE-related conditions (PMID: 28763557). Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393). For these reasons, this variant has been classified as Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002906 SCV001160941 pathogenic Cone-rod degeneration 2019-06-23 no assertion criteria provided research

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