ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.449G>A (p.Arg150His)

gnomAD frequency: 0.00004  dbSNP: rs149227118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214331 SCV001386008 uncertain significance Reticular dysgenesis 2022-04-01 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 150 of the AK2 protein (p.Arg150His). This variant is present in population databases (rs149227118, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 944021). 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: "Benign"; Align-GVGD: "Class C25"). 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.
GeneDx RCV001751396 SCV001995786 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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