ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)

dbSNP: rs780697796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987427 SCV001136717 pathogenic Retinitis pigmentosa 41 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865639 SCV002243660 pathogenic not provided 2022-05-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs780697796, gnomAD 0.01%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 438214). This premature translational stop signal has been observed in individuals with autosomal recessive PROM1-related conditions (PMID: 25356976, 28041643, 29555955). This sequence change creates a premature translational stop signal (p.Arg146*) in the PROM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PROM1 are known to be pathogenic (PMID: 17605048, 19718270, 24154662, 25474345).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504986 SCV000599177 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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