ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.869del (p.Ser290fs)

dbSNP: rs1355802816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987423 SCV001136713 pathogenic Retinitis pigmentosa 41 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858666 SCV002239444 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser290Ilefs*2) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with clinical features of autosomal recessive retinitis pigmentosa and/or cone rod dystrophy (PMID: 20042663, 31129250). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 802055). For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324542 SCV004030274 pathogenic Cone-rod dystrophy 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0

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