ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)

gnomAD frequency: 0.00003  dbSNP: rs368515078
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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 RCV001074064 SCV001239633 uncertain significance Retinal dystrophy 2018-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092551 SCV001249104 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092551 SCV001541378 uncertain significance not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 816 of the PROM1 protein (p.Ala816Pro). This variant is present in population databases (rs368515078, gnomAD 0.008%). This missense change has been observed in individuals with clinical features of inherited retinal disease (PMID: 32483926, 36819107). ClinVar contains an entry for this variant (Variation ID: 866234). 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%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002482152 SCV002775249 uncertain significance Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 2022-01-19 criteria provided, single submitter clinical testing

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