ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.845+1G>C

gnomAD frequency: 0.00001  dbSNP: rs766590645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667118 SCV000791518 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000667118 SCV002283707 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-08-17 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with primary immunodeficiency and/or severe combined immunodeficiency (PMID: 32135276; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 551944). This variant is present in population databases (rs766590645, gnomAD 0.003%). This sequence change affects a donor splice site in intron 9 of the ADA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ADA are known to be pathogenic (PMID: 26255240, 26376800).
Baylor Genetics RCV000667118 SCV004216637 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-10-23 criteria provided, single submitter clinical testing

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