ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.1450A>G (p.Met484Val)

gnomAD frequency: 0.00003  dbSNP: rs574974703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028275 SCV002287140 uncertain significance not provided 2021-08-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 484 of the PROM1 protein (p.Met484Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs574974703, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PROM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002486592 SCV002790947 uncertain significance Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 2022-01-22 criteria provided, single submitter clinical testing

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