ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.622T>C (p.Ser208Pro)

dbSNP: rs776378314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297765 SCV001486796 uncertain significance Reticular dysgenesis 2020-03-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of AK2 deficiency (PMID: 31673062). This variant has been reported to affect AK2 protein function (PMID: 31673062). 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. This sequence change replaces serine with proline at codon 208 of the AK2 protein (p.Ser208Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline.

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