ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG

gnomAD frequency: 0.00003  dbSNP: rs781605283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674318 SCV000799635 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2018-04-30 criteria provided, single submitter clinical testing
Invitae RCV000674318 SCV003508399 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2022-06-29 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the ADA gene. It does not directly change the encoded amino acid sequence of the ADA protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADA-related conditions. ClinVar contains an entry for this variant (Variation ID: 558094). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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