ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.2490+4A>C

gnomAD frequency: 0.00002  dbSNP: rs745806475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001123742 SCV001282607 uncertain significance T-B+ severe combined immunodeficiency due to JAK3 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001123742 SCV001528266 uncertain significance T-B+ severe combined immunodeficiency due to JAK3 deficiency 2018-11-11 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 RCV001123742 SCV003242317 uncertain significance T-B+ severe combined immunodeficiency due to JAK3 deficiency 2022-06-15 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the JAK3 gene. It does not directly change the encoded amino acid sequence of the JAK3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs745806475, gnomAD 0.1%). 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: 889683). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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