ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1804_1805del (p.His603fs)

dbSNP: rs1667508280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199489 SCV001162560 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001860543 SCV002233355 pathogenic not provided 2023-08-20 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: 813057). This variant is also known as c.1804_1805delAG in C2orf71. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 31370859). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His603Argfs*76) in the PCARE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393).
OMIM RCV003227888 SCV003840922 pathogenic Cone-rod dystrophy 23 2023-02-16 no assertion criteria provided literature only

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