ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs)

dbSNP: rs886044002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333218 SCV000342985 pathogenic not provided 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000333218 SCV001585139 pathogenic not provided 2022-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu744Glufs*7) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with inherited retinal dystrophy (PMID: 27353947, 28763557). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals.
Revvity Omics, Revvity RCV000333218 SCV004238826 pathogenic not provided 2020-06-25 criteria provided, single submitter clinical testing

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