ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys)

gnomAD frequency: 0.00001  dbSNP: rs200631515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329704 SCV001521216 uncertain significance T-B+ severe combined immunodeficiency due to JAK3 deficiency 2019-12-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001329704 SCV003276264 uncertain significance T-B+ severe combined immunodeficiency due to JAK3 deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 370 of the JAK3 protein (p.Glu370Lys). This variant is present in population databases (rs200631515, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with JAK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028620). 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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