ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.307C>T (p.Arg103Trp) (rs267606648)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000019922 SCV000966994 likely pathogenic Reticular dysgenesis 2018-09-26 criteria provided, single submitter clinical testing The p.Arg103Trp variant in AK2 has been reported in the homozygous state in 2 in dividuals and the compound heterozygous state with a nonsense variant in 1 indiv idual with reticular dysgenesis (Lagresle-Peyrou 2009, Hoenig 2017). This varian t was absent from large population studies. In vivo studies, using fibroblasts d erived from one of the affected individuals homozygous for this variant, provide some evidence that the variant reduces expression levels (Lagresle-Peyrou 2009) ; however, these types of assays may not accurately represent biological functio n. Computational prediction tools and conservation analysis suggest that this va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, the p.Arg103Trp variant is likely pathogenic. ACMG/AMP criteria applied: PM2, PM3, PP3, PP4.
OMIM RCV000019922 SCV000040220 pathogenic Reticular dysgenesis 2009-01-01 no assertion criteria provided literature only

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