ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)

gnomAD frequency: 0.00001  dbSNP: rs1033920857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073905 SCV001239470 uncertain significance Retinal dystrophy 2018-05-29 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376252 SCV001573330 uncertain significance Retinitis pigmentosa 41 2021-04-08 criteria provided, single submitter research The PROM1 c.2327A>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862810 SCV002258385 likely pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 776 of the PROM1 protein (p.Asp776Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with retinitis pigmentosa and/or Stargardt disease (PMID: 28095140; Invitae). ClinVar contains an entry for this variant (Variation ID: 866133). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PROM1 protein function with a positive predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002489720 SCV002777033 uncertain significance Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 2022-01-11 criteria provided, single submitter clinical testing

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