ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val)

gnomAD frequency: 0.00001  dbSNP: rs546606452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040975 SCV001204569 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 994 of the ABCA4 protein (p.Ile994Val). This variant is present in population databases (rs546606452, gnomAD 0.009%). This missense change has been observed in individual(s) with cone-rod dystrophy (PMID: 30902645). ClinVar contains an entry for this variant (Variation ID: 839262). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Department of Genetics, Fundacion Jimenez Diaz University Hospital RCV001270349 SCV001450574 uncertain significance Retinitis pigmentosa criteria provided, single submitter clinical testing This variant is present in population databases (rs546606452, gnomAD_exomes 0.012%). Variant not reported in the literature, predicted deleterious by in-silico pathogenicity predictors. (ACMG: PM2 Moderate; PP3 Supporting)

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