ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser)

dbSNP: rs2061986476
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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 RCV001234193 SCV001406825 uncertain significance Vasculitis due to ADA2 deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 397 of the ADA2 protein (p.Tyr397Ser). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ADA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.

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