ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)

gnomAD frequency: 0.00004  dbSNP: rs374687000
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585492 SCV000692633 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199623 SCV001162387 uncertain significance Cone-rod dystrophy 2023-12-12 criteria provided, single submitter research
Invitae RCV000585492 SCV001227396 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1854 of the ABCA4 protein (p.Val1854Leu). This variant is present in population databases (rs374687000, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 493043). 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.
Blueprint Genetics RCV001075607 SCV001241234 uncertain significance Retinal dystrophy 2019-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000585492 SCV001788326 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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