ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.156T>G (p.His52Gln)

gnomAD frequency: 0.00004  dbSNP: rs557725292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044124 SCV001207902 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 52 of the ABCA4 protein (p.His52Gln). This variant is present in population databases (rs557725292, gnomAD 0.02%). 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: 841821). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV001075007 SCV001240617 uncertain significance Retinal dystrophy 2018-02-07 criteria provided, single submitter clinical testing
GeneDx RCV001044124 SCV003918404 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Observed with two other ABCA4 variants in a patient with cone-rod dystrophy in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Alapati et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25082885)

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