ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.2756C>T (p.Ala919Val)

gnomAD frequency: 0.00006  dbSNP: rs767424476
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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 RCV000685382 SCV000812860 likely benign T-B+ severe combined immunodeficiency due to JAK3 deficiency 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907943 SCV004719662 uncertain significance JAK3-related disorder 2024-02-29 no assertion criteria provided clinical testing The JAK3 c.2756C>T variant is predicted to result in the amino acid substitution p.Ala919Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of African descent in gnomAD. 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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