ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)

gnomAD frequency: 0.00009  dbSNP: rs200346409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Santos-Cortez Lab, University of Colorado School of Medicine RCV000768676 SCV000900044 uncertain significance Otitis media, susceptibility to 2019-04-25 criteria provided, single submitter research
Invitae RCV001220299 SCV001392279 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 730 of the A2ML1 protein (p.Arg730His). This variant is present in population databases (rs200346409, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with A2ML1-related conditions. ClinVar contains an entry for this variant (Variation ID: 626341). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV001261815 SCV001439144 uncertain significance Otitis media no assertion criteria provided research

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