ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.655G>A (p.Val219Met)

gnomAD frequency: 0.00004  dbSNP: rs755736918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822641 SCV000963451 uncertain significance Reticular dysgenesis 2022-08-23 criteria provided, single submitter clinical testing 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 664531). This variant has not been reported in the literature in individuals affected with AK2-related conditions. This variant is present in population databases (rs755736918, gnomAD 0.009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 219 of the AK2 protein (p.Val219Met).
PreventionGenetics, part of Exact Sciences RCV003424363 SCV004118494 uncertain significance AK2-related disorder 2022-11-04 criteria provided, single submitter clinical testing The AK2 c.655G>A variant is predicted to result in the amino acid substitution p.Val219Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-33478847-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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