ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)

gnomAD frequency: 0.00003  dbSNP: rs374017889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987425 SCV001136715 pathogenic Retinitis pigmentosa 41 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198630 SCV001369624 likely pathogenic Cone-rod dystrophy 12 2019-01-03 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001383311 SCV001582400 pathogenic not provided 2022-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln218*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 802057). This variant has not been reported in the literature in individuals affected with PROM1-related conditions. This variant is present in population databases (rs374017889, gnomAD 0.005%).
CeGaT Center for Human Genetics Tuebingen RCV001383311 SCV002497256 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing

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