ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.1234del (p.Tyr412fs)

dbSNP: rs1460604134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591097 SCV000706394 pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074705 SCV001240298 pathogenic Retinal dystrophy 2019-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591097 SCV001590236 pathogenic not provided 2023-06-11 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: 500442). This variant has not been reported in the literature in individuals affected with PROM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr412Metfs*34) 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).
PreventionGenetics, part of Exact Sciences RCV004530703 SCV004117953 likely pathogenic PROM1-related disorder 2023-07-05 criteria provided, single submitter clinical testing The PROM1 c.1234delT variant is predicted to result in a frameshift and premature protein termination (p.Tyr412Metfs*34). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PROM1 are expected to be pathogenic. Therefore we interpret c.1234del (p.Tyr412Metfs*34) as likely pathogenic.

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